Literature DB >> 7581407

Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.

M C Romey1, M Desgeorges, P Ray, P Godard, J Demaille, M Claustres.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1995        PMID： 7581407     DOI： 10.1002/humu.1380060216

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


× No keyword cloud information.
  3 in total

1.  Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.

Authors:  M Macek; A Mackova; A Hamosh; B C Hilman; R F Selden; G Lucotte; K J Friedman; M R Knowles; B J Rosenstein; G R Cutting
Journal:  Am J Hum Genet       Date:  1997-05       Impact factor: 11.025

2.  Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.

Authors:  Won-Jung Koh; Chang-Seok Ki; Jong-Won Kim; Jeong-Ho Kim; Seong Yong Lim
Journal:  J Korean Med Sci       Date:  2006-06       Impact factor: 2.153

3.  Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.

Authors:  Baoying Zheng; Ling Cao
Journal:  Pediatr Pulmonol       Date:  2016-10-07
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.