SCREENING FOR CYSTIC-FIBROSIS MUTATIONS IN SPANISH PATIENTS

被引：2

作者：

MOLANO, J

EZQUIETA, B

GRANELL, R

机构：

[1] Unidad de Genética Molecular, Servicio de Bioquimica, Hospital La Paz, 28046 Madrid

来源：

CLINICA CHIMICA ACTA | 1994年 / 226卷 / 02期

关键词：

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR); CYSTIC FIBROSIS MUTATIONS;

D O I：

10.1016/0009-8981(94)90219-4

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

[No abstract available]

引用

页码：247 / 253

页数：7

共 29 条

[1]

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

[2]

CHILLON M, 1990, AM J HUM GENET, V47, P396

[3]

CRANELL R, 1992, AM J HUM GENET, V50, P1022

[4]

CREMONESI L, 1991, CLIN CHEM, V37, P1967

[5]

Cremonesi Laura, 1992, Human Mutation, V1, P314, DOI 10.1002/humu.1380010409

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

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[7]

Cystic Fibrosis Genetic Anal Consortium, 1990, AM J HUM GENET, V47, P354

[8] 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

[9]

DEVOTO M, 1991, AM J HUM GENET, V48, P1127

[10]

EZQUIETA B, 1993, HUM GENET, V91, P614

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