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CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis

Leung GK 1 , Ying D 2 , Mak CC 1 , Chen XY 3 , Xu W 3 , Yeung KS 1 Show all authors , Wong WL 1 , Chu YW 1 , Mok GT 1 , Chau CS 4 , McLuskey J 5 , Ong WP 6 , Leong HY 6 , Chan KY 7 , Yang W 1 , Chen JH 3 , Li AM 8 , Sham PC 2 , Lau YL 9 , Chung BH 10 , Lee SL 10

Affiliations 

  • 1 Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong Kong Hong Kong Hong Kong
  • 2 Department of Psychiatry LKS Faculty of Medicine The University of Hong Kong Hong Kong Hong Kong
  • 3 HKU Shenzhen Institute of Research and Innovation School of Biomedical Sciences The University of Hong Kong Hong Kong Hong Kong
  • 4 Department of Paediatrics and Adolescent Medicine Queen Mary Hospital Hong Kong Hong Kong
  • 5 NHS Lothian Lothian NHS Board Edinburgh UK
  • 6 Department of Genetics Kuala Lumpur Hospital Kuala Lumpur Malaysia
  • 7 Department of Obstetrics and Gynaecology Tsan Yuk Hospital Hong Kong Hong Kong
  • 8 Department of Paediatrics Faculty of Medicine The Chinese University of Hong Kong Hong Kong Hong Kong
  • 9 Department of Paediatrics and Adolescent MedicineLKS Faculty of MedicineThe University of Hong KongHong KongHong Kong; Department of Paediatrics and Adolescent MedicineQueen Mary HospitalHong KongHong Kong
  • 10 Department of Paediatrics and Adolescent MedicineLKS Faculty of MedicineThe University of Hong KongHong KongHong Kong; Department of Paediatrics and Adolescent MedicineQueen Mary HospitalHong KongHong Kong; Department of Paediatrics and Adolescent MedicineThe Duchess of Kent Children's Hospital at Sandy BayHong Kong
Mol Genet Genomic Med, 2017 Jan;5(1):40-49.
PMID: 28116329 DOI: 10.1002/mgg3.258

Abstract

Cystic fibrosis (CF) is a rare condition in Asians. Since 1985, only about 30 Chinese patients have been reported with molecular confirmation.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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