A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype-Reference-Cited by-同舟云学术

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A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype

Published:2005-03-03 Issue:6 Volume:116 Page:454-460
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Clain J�r�me,Lehmann-Che Jacqueline,Girodon Emmanuelle,Lipecka Joanna,Edelman Aleksander,Goossens Michel,Fanen Pascale

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-004-1246-z.pdf

Reference27 articles.

1. Anderson MP, Welsh MJ (1992) Regulation by ATP and ADP of CFTR chloride channels that contain mutant nucleotide-binding domains [published erratum appears in Science (1992) 258:1719]. Science 257:1701?1704

2. Baroudi G, Acharfi S, Larouche C, Chahine M (2002) Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. Circ Res 90:E11?E16

3. Bombieri C, Benetazzo M, Saccomani A, Belpinati F, Gile LS, Luisetti M, Pignatti PF (1998) Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease. Hum Genet 103:718?722

4. Bonizzato A, Bisceglia L, Marigo C, Nicolis E, Bombieri C, Castellani C, Borgo G, Zelante L, Mastella G, Cabrini G, et al (1995) 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. Hum Genet 95:397?402

5. Caciotti A, Bardelli T, Cunningham J, D?Azzo A, Zammarchi E, Morrone A (2003) Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. Hum Genet 113:44?50

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3. Advances in the Study of Common and Rare CFTR Complex Alleles Using Intestinal Organoids;Journal of Personalized Medicine;2024-01-23

4. The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy;International Journal of Molecular Sciences;2023-12-21

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