A NEW MISSENSE MUTATION (E92K) IN THE 1ST TRANSMEMBRANE DOMAIN OF THE CFTR GENE CAUSES A BENIGN CYSTIC-FIBROSIS PHENOTYPE

被引:24
作者
NUNES, V
CHILLON, M
DORK, T
TUMMLER, B
CASALS, T
ESTIVILL, X
机构
[1] HOSP DURAN & REYNALS, CANC RES INST,DEPT MOLEC GENET,CAMPUS BELLVITGE, AV CASTELLDEFELS KM 27, E-08907 BARCELONA, SPAIN
[2] HANNOVER MED SCH, BIOPHYS CHEM ABT, W-3000 HANNOVER 61, GERMANY
关键词
D O I
10.1093/hmg/2.1.79
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:79 / 80
页数:2
相关论文
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