Genotype-phenotype relationships in cystic fibrosis

被引：97

作者：

Mickle, JE

Cutting, GR

机构：

[1] Johns Hopkins Univ, Sch Med, Inst Med Genet, Dept Pediat, Baltimore, MD 21287 USA

[2] Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21287 USA

来源：

MEDICAL CLINICS OF NORTH AMERICA | 2000年 / 84卷 / 03期

关键词：

D O I：

10.1016/S0025-7125(05)70243-1

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Despite being a monogenic disorder, the genotype-phenotype relationship in CF is complex; however, certain conclusions can be derived from studying this relationship. Mutations in both CFTR alleles cause the CF phenotype. Genotype correlates more closely with certain features of the CF phenotype than others. Molecular analyses of disease-associated mutations provide a mechanistic framework for genotype-based therapy and pharmacologic intervention.

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收藏

页码：597 / +

页数：12

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