(Q28217255)

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Molecular Analysis in Brazilian Cystic Fibrosis Patients Reveals Five Novel Mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

The 3120 +1G-->A splicing mutation in CFTR is common in Brazilian cystic fibrosis patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

First report of CFTR mutations in black cystic fibrosis patients of southern African origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Identical Intragenic MicrosateUite Haplotype Found in Cystic Fibrosis Chromosomes Bearing Mutation G551D in Irish, English, Scottish, Breton and Czech Patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Spectrum of CFTR mutations in Argentine cystic fibrosis patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Mutation analysis in 600 French cystic fibrosis patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Frequency of the delta F508 deletion and G551D, R553X and G542X mutations in Yugoslav CF patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Detection of over 98% cystic fibrosis mutations in a Celtic population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Cystic fibrosis transmembrane-conductance regulator mutations among African Americans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Identification of cystic fibrosis mutations in the United Arab Emirates. Mutations in brief no. 133. Online

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Determination of the prevalence of cystic fibrosis in the United Arab Emirates by genetic carrier screening

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

A Cystic Fibrosis Mutation Associated with Mild Lung Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

The molecular basis of cystic fibrosis in South Africa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Newborn screening for cystic fibrosis in Wisconsin: comparison of biochemical and molecular methods.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Cystic fibrosis mutations: report from the French Registry. The Clinical Centers of the CF

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Cystic fibrosis in a low-incidence population: two major mutations in Finland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Neonatal screening for the cystic fibrosis main mutation delta F508 in Estonia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

The incidence of cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Cystic fibrosis in blacks in Washington, DC: incidence and characteristics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

3849 + 10 kb C --> T splicing mutation in Hispanic CF patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Analysis of the complete coding region of the CFTR gene in ten Algerian cystic fibrosis families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Complete detection of mutations in cystic fibrosis patients of Native American origin.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Influence of neonatal screening and centralized treatment on long-term clinical outcome and survival of CF patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Structure and function of the cystic fibrosis transmembrane conductance regulator

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Prevalence of cystic fibrosis mutations in Israeli Jews

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Frequency of delta F508 in a Mexican sample of cystic fibrosis patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G-->A)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Molecular characterisation of cystic fibrosis patients in the state of São Paulo (Brazil)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

The DeltaF508 mutation in Ecuador, South America

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Molecular basis of cystic fibrosis in the Republic of Macedonia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Cystic fibrosis mutations in Romania

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

CFTR mutations in three Latin American countries

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

CFTR mutations in Chilean cystic fibrosis patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Why is the cystic fibrosis gene so frequent?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

394delTT: a Nordic cystic fibrosis mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Analysis of 16 cystic fibrosis mutations in Mexican patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Clinical outcomes of newborn screening for cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Comprehensive mutation screening in a cystic fibrosis center.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Novel Cystic Fibrosis mutation L1093P: functional analysis and possible Native American origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Study of 12 mutations in Turkish cystic fibrosis patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021

Cystic fibrosis: genotypic and phenotypic variations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10041

7 January 2021