Publications:

Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.

Journal Of Medical Biochemistry

Ivády, Gergely G; Koczok, Katalin K; Madar, Laszlo L; Gombos, Eva E; Toth, Izabella I; Gyori, Klaudia K; Balogh, István I

Publication Date: 2015-01

Variant appearance in text: CFTR: 3822G>A; W1274X

PubMed Link: 28356823

Variant Present in the following documents:

• Main text
• jomb-2014-0055.pdf

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Correctors and Potentiators Rescue Function of the Truncated W1282X-Cystic Fibrosis Transmembrane Regulator (CFTR) Translation Product.

The Journal Of Biological Chemistry

Haggie, Peter M PM; Phuan, Puay-Wah PW; Tan, Joseph-Anthony JA; Xu, Haijin H; Avramescu, Radu G RG; Perdomo, Doranda D; Zlock, Lorna L; Nielson, Dennis W DW; Finkbeiner, Walter E WE; Lukacs, Gergely L GL; Verkman, Alan S AS

Publication Date: 2017-01-20

Variant appearance in text: CFTR: W1274X

PubMed Link: 27895116

Variant Present in the following documents:

• Main text

View BVdb publication page