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Diversity of Cystic Fibrosis Mutation-Screening Practices

  • Published:1998-05 Issue:5 Volume:62 Page:1252-1254
  • ISSN:0002-9297
  • Container-title:The American Journal of Human Genetics
  • language:en
  • Short-container-title:The American Journal of Human Genetics

Author:

Grody Wayne W.,Desnick Robert J.,Carpenter Nancy J.,Noll Walter W.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens;Chillon;N Engl J Med,1995

2. Population variation of common cystic fibrosis mutations;Cystic Fibrosis Genetic Analysis Consortium;Hum Mutat,1994

3. Experience of an academic reference laboratory using automation for analysis of cystic fibrosis mutations;DeMarchi;Arch Pathol Lab Med,1994

4. Prenatal genetic carrier testing using triple disease screening;Eng;JAMA,1997

5. Structural analysis of CFTR gene in congenital bilateral absence of vas deferens;Jezequel;Clin Chem,1995

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1. Cystic Fibrosis;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2020

2. Diagnostic Molecular Genetics;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2019

3. Cystic Fibrosis;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

4. Diagnostic Molecular Genetics;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

5. Carrier screening for cystic fibrosis in US genetic testing laboratories: a survey of laboratory directors;Clinical Genetics;2008-08-12
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