Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Genet Med. 2004 Sep-Oct;6(5):387-91. doi: 10.1097/01.gim.0000139506.11694.7c.

Authors

Michael S Watson¹, Garry R Cutting, Robert J Desnick, Deborah A Driscoll, Katherine Klinger, Michael Mennuti, Glenn E Palomaki, Bradley W Popovich, Victoria M Pratt, Elizabeth M Rohlfs, Charles M Strom, C Sue Richards, David R Witt, Wayne W Grody

Affiliation

¹ ACMG Cystic Fibrosis Carrier Screening Work Group, American College of Medical Genetics, Bethesda, Maryland 20814, USA.

No abstract available

Publication types

Guideline

MeSH terms

Cystic Fibrosis / diagnosis*
Cystic Fibrosis / genetics
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Genetic Carrier Screening*
Genetic Testing*
Humans
Mutation

Substances

CFTR protein, human
Cystic Fibrosis Transmembrane Conductance Regulator