Publications:

Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis.

Canadian Respiratory Journal

Shao, Hongxia H; Hua, Jingna J; Wu, Qi Q; Li, Xiaoge X; Zhang, Ming M; Wang, Herong H; Wu, Junping J; Xu, Long L; Xie, Yi Y; Li, Li L; Chen, Huaiyong H

Publication Date: 2020

Variant appearance in text: CFTR: 3119T>A; L1040H

PubMed Link: 32454915

Variant Present in the following documents:

• CRJ2020-6507583.pdf

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Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.

Iranian Biomedical Journal

Mohseni, Marzieh M; Razzaghmanesh, Mohammad M; Parsi Mehr, Elham E; Zare, Hanieh H; Beheshtian, Maryam M; Najmabadi, Hossein H

Publication Date: 2016-09

Variant appearance in text: CFTR: 3119T>A; L1040H

PubMed Link: 27017198

Variant Present in the following documents:

• IBJ-20-201.pdf

View BVdb publication page