A COMPREHENSIVE CFTR MUTATION ANALYSIS OF GERMAN CYSTIC-FIBROSIS PATIENTS

被引：3

作者：

REISS, J

ELLERMEYER, U

RININSLAND, F

BALLHAUSEN, P

LENZ, U

WAGNER, S

SCHLOSSER, M

机构：

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 06期

关键词：

D O I：

10.1093/hmg/2.6.809

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：809 / 811

页数：3

共 20 条

[1]

Boat TF., 1989, CYSTIC FIBROSIS META, V6th, P2649

[2]

COOPER DN, 1990, HUM GENET, V85, P55

[3] A CLUSTER OF CYSTIC-FIBROSIS MUTATIONS IN THE 1ST NUCLEOTIDE-BINDING FOLD OF THE CYSTIC-FIBROSIS CONDUCTANCE REGULATOR PROTEIN [J].

CUTTING, GR ;

KASCH, LM ;

ROSENSTEIN, BJ ;

ZIELENSKI, J ;

TSUI, LC ;

ANTONARAKIS, SE ;

KAZAZIAN, HH .

NATURE, 1990, 346 (6282) :366-369

[4] MULTIPLE MUTATIONS IN HIGHLY CONSERVED RESIDUES ARE FOUND IN MILDLY AFFECTED CYSTIC-FIBROSIS PATIENTS [J].

DEAN, M ;

WHITE, MB ;

AMOS, J ;

GERRARD, B ;

STEWART, C ;

KHAW, KT ;

LEPPERT, M .

CELL, 1990, 61 (05) :863-870

[5]

DORK T, 1992, HUM GENET, V90, P279

[6] MOLECULAR CHARACTERIZATION OF CYSTIC-FIBROSIS - 16 NOVEL MUTATIONS IDENTIFIED BY ANALYSIS OF THE WHOLE CYSTIC-FIBROSIS CONDUCTANCE TRANSMEMBRANE REGULATOR (CFTR) CODING REGIONS AND SPLICE SITE JUNCTIONS [J].

FANEN, P ;

GHANEM, N ;

VIDAUD, M ;

BESMOND, C ;

MARTIN, J ;

COSTES, B ;

PLASSA, F ;

GOOSSENS, M .

GENOMICS, 1992, 13 (03) :770-776

[7] DETECTION OF OVER 98-PERCENT CYSTIC-FIBROSIS MUTATIONS IN A CELTIC POPULATION [J].

FEREC, C ;

AUDREZET, MP ;

MERCIER, B ;

GUILLERMIT, H ;

MOULLIER, P ;

QUERE, I ;

VERLINGUE, C .

NATURE GENETICS, 1992, 1 (03) :188-191

[8] THE SEARCH FOR SOUTH EUROPEAN CYSTIC-FIBROSIS MUTATIONS - IDENTIFICATION OF 2 NEW MUTATIONS, 4 VARIANTS, AND INTRONIC SEQUENCES [J].

GASPARINI, P ;

NUNES, V ;

SAVOIA, A ;

DOGNINI, M ;

MORRAL, N ;

GAONA, A ;

BONIZZATO, A ;

CHILLON, M ;

SANGIUOLO, F ;

NOVELLI, G ;

DALLAPICCOLA, B ;

PIGNATTI, PF ;

ESTIVILL, X .

GENOMICS, 1991, 10 (01) :193-200

[9] IDENTIFICATION OF MUTATIONS IN REGIONS CORRESPONDING TO THE 2 PUTATIVE NUCLEOTIDE (ATP)-BINDING FOLDS OF THE CYSTIC-FIBROSIS GENE [J].

KEREM, BS ;

ZIELENSKI, J ;

MARKIEWICZ, D ;

BOZON, D ;

GAZIT, E ;

YAHAV, J ;

KENNEDY, D ;

RIORDAN, JR ;

COLLINS, FS ;

ROMMENS, JM ;

TSUI, LC .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (21) :8447-8451

[10]

KRAWCZAK M, 1992, HUM GENET, V90, P41

← 1 2 →