(Q78412090)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12394343%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

title

The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12394343%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

1 reference

Elizabeth M Rohlfs

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12394343%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Zhaoqing Zhou

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12394343%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Elaine A Sugarman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12394343%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Ruth A Heim

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12394343%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

Rhonda G Pace

5

1 reference

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14 December 2019

Michael R Knowles

6

1 reference

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14 December 2019

Lawrence M Silverman

7

1 reference

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14 December 2019

Bernice A Allitto

8

1 reference

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14 December 2019

publication date

1 September 2002

1 reference

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14 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12394343%20AND%20SRC:MED&resulttype=core&format=json

14 December 2019

volume

4

1 reference

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14 December 2019

page(s)

319-323

1 reference

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14 December 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12394343%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1097/00125817-200209000-00001

14 December 2019

exact match

0 references

cites work

Genotype and phenotype in cystic fibrosis

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

21 January 2018

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'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations

21 January 2018

1 reference

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Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations

21 January 2018

1 reference

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Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

21 January 2018

1 reference

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A mutation in CFTR produces different phenotypes depending on chromosomal background

21 January 2018

1 reference

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Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200209000-00001

Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G

21 January 2018

1 reference

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Clinical features of cystic fibrosis patients with rare genotypes

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Mutation analysis in 600 French cystic fibrosis patients

21 January 2018

1 reference

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

21 January 2018

1 reference

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Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.

21 January 2018

1 reference

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Disease-Associated Mutations in Cytoplasmic Loops 1 and 2 of Cystic Fibrosis Transmembrane Conductance Regulator Impede Processing or Opening of the Channel†

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200209000-00001

Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200209000-00001

Cystic fibrosis: a further case of an asymptomatic compound heterozygote

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F00125817-200209000-00001

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

21 January 2018

1 reference

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A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.

21 January 2018

1 reference

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Double mutant alleles: are they rare?

21 January 2018

1 reference

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Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis.

21 January 2018

1 reference

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Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected

21 January 2018

1 reference

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Asymptomatic carrier of two CFTR mutations: consequences for prenatal diagnosis?

21 January 2018

1 reference

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