A NOVEL NONSENSE MUTATION, W846XI (AMBER TERMINATION), IN EXON-14A OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE

被引：4

作者：

CHEADLE, JP

ALJADER, LN

MEREDITH, AL

机构：

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 07期

关键词：

D O I：

10.1093/hmg/2.7.1067

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

页码：1067 / 1068

页数：2

共 12 条

[1]

ADAMS JG, 1990, SEMIN HEMATOL, V27, P229

[2] MUTATION ANALYSIS OF 184 CYSTIC-FIBROSIS FAMILIES IN WALES [J].

CHEADLE, J ;

MYRING, J ;

ALJADER, L ;

MEREDITH, L .

JOURNAL OF MEDICAL GENETICS, 1992, 29 (09) :642-646

[3] 2 NOVEL FRAME-SHIFT MUTATIONS - 977-INSA IN EXON-6B, AND 4016-INST IN EXON-21, OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE [J].

CHEADLE, JP ;

ALJADER, LN ;

MEREDITH, AL .

HUMAN MOLECULAR GENETICS, 1993, 2 (03) :317-319

[4] IDENTIFICATION OF THE CYSTIC-FIBROSIS GENE - GENETIC-ANALYSIS [J].

KEREM, BS ;

ROMMENS, JM ;

BUCHANAN, JA ;

MARKIEWICZ, D ;

COX, TK ;

CHAKRAVARTI, A ;

BUCHWALD, M ;

TSUI, LC .

SCIENCE, 1989, 245 (4922) :1073-1080

[5]

KITE J H, 1955, South Med J, V48, P1141

[6]

KRISTIDIS P, 1992, AM J HUM GENET, V50, P1178

[7] DUPLICATION OF 16Q AND DELETION OF 15Q [J].

NYHAN, WL ;

MASCARELLO, J ;

BARSHOP, B ;

DOROSKI, D ;

HIRSCHHORN, K .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (02) :183-186

[8]

RIORDAN JR, 1989, SCIENCE, V245, P1066

[9] IDENTIFICATION OF THE CYSTIC-FIBROSIS GENE - CHROMOSOME WALKING AND JUMPING [J].

ROMMENS, JM ;

IANNUZZI, MC ;

KEREM, BS ;

DRUMM, ML ;

MELMER, G ;

DEAN, M ;

ROZMAHEL, R ;

COLE, JL ;

KENNEDY, D ;

HIDAKA, N ;

ZSIGA, M ;

BUCHWALD, M ;

RIORDAN, JR ;

TSUI, LC ;

COLLINS, FS .

SCIENCE, 1989, 245 (4922) :1059-1065

[10]

Tsui Lap-Chee, 1992, Human Mutation, V1, P197, DOI 10.1002/humu.1380010304

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