Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations? (Q24798208)

2

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Caroline Guittard

3

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Carine Templin

4

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Françoise Chevalier-Porst

5

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Marie Des Georges

Cystic fibrosis: selecting the prenatal screening strategy of choice.

6

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language of work or name

English

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publication date

2 August 2004

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published in

BMC Medical Genetics

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volume

5

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issue

1

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page(s)

19

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cites work

1 reference

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Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis

28 September 2017

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

28 September 2017

1 reference

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Identification of revertants for the cystic fibrosis delta F508 mutation using STE6-CFTR chimeras in yeast

28 September 2017

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28 September 2017

1 reference

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Identification of Cystic Fibrosis Mutations

30 May 2018

1 reference

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Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene

30 May 2018

1 reference

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Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.

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

https://api.crossref.org/works/10.1186%2F1471-2350-5-19

Nomenclature for the description of human sequence variations

21 January 2018

1 reference

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

21 January 2018

1 reference

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Molecular Analysis in Brazilian Cystic Fibrosis Patients Reveals Five Novel Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-19

A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

1 reference

12 December 2020

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

12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Double mutant alleles: are they rare?

1 reference

12 December 2020