(Q41369290)

30 September 2017

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title

Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation (English)

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30 September 2017

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1

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30 September 2017

Rippa E

2

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30 September 2017

Salvatore D

3

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30 September 2017

Sibillo R

4

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30 September 2017

Raia V

5

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30 September 2017

de Ritis G

6

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30 September 2017

Salvatore F

7

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30 September 2017

publication date

1 March 1997

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American Journal of Medical Genetics Part A

30 September 2017

published in

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30 September 2017

volume

69

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30 September 2017

issue

2

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30 September 2017

page(s)

155-158

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Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene

30 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

Clinical features of cystic fibrosis patients with rare genotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

Genotype analysis for delta F508, G551D and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

Cystic fibrosis in Bulgaria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

Analysis of risk factors for the development of liver disease associated with cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

Hepatobiliary disease in cystic fibrosis: a survey of current issues and concepts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

Correlation between genotype and phenotype in patients with cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970317%2969%3A2%3C155%3A%3AAID-AJMG7%3E3.0.CO%3B2-O

10.1002/(SICI)1096-8628(19970317)69:2<155::AID-AJMG7>3.0.CO;2-O

21 January 2018

Identifiers

DOI

1 reference

30 September 2017

1 reference