PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS BY MULTIPLEX PCR OF MUTATION AND MICROSATELLITE ALLELES

被引：14

作者：

ESTIVILL, X

MORRAL, N

CASALS, T

NUNES, V

机构：

来源：

LANCET | 1991年 / 338卷 / 8764期

关键词：

D O I：

10.1016/0140-6736(91)91092-9

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：458 / 458

页数：1

共 7 条

[1]

CASALS T, IN PRESS J MED GENET

[2] 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

[3] 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

[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] CA/GT MICROSATELLITE ALLELES WITHIN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE ARE NOT GENERATED BY UNEQUAL CROSSINGOVER [J].

MORRAL, N ;

NUNES, V ;

CASALS, T ;

ESTIVILL, X .

GENOMICS, 1991, 10 (03) :692-698

[6] DELTA-F508 GENE DELETION AND PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS IN ITALIAN AND SPANISH FAMILIES [J].

NOVELLI, G ;

SANGIUOLO, F ;

DALLAPICCOLA, B ;

GASPARINI, P ;

SAVOIA, A ;

PIGNATTI, PF ;

FERNANDEZ, E ;

BENITEZ, J ;

CASALS, T ;

NUNES, V ;

MANAS, P ;

ESTIVILL, X .

PRENATAL DIAGNOSIS, 1990, 10 (06) :413-414

[7]

1991, AM J HUM GENET, V47, P354

← 1 →