Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis

Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis

Since the discovery in 1989 that mutations in cystic fibrosis transmembrane conductance regulator (CFTR) underlie cystic fibrosis (CF), the most common life shortening genetic disorder in Caucasians, it has been possible to identify heterozygous mutation carriers at risk of having affected children....

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Bibliographic Details
Main Authors: Delatycki, M., Burke, J., Christie, L., Collins, F., Gabbett, M., George, P., Haan, E., Ioannou, L., Martin, N., McKenzie, F., O'Leary, Peter, Scoble-Williams, N., Turner, G., Massie, J.
Format: Journal Article
Published: Australian Academic Press Pty. Ltd 2014
Subjects:
cystic fibrosis
carrier testing
carrier
heterozygote
genetic counselling
Online Access:http://hdl.handle.net/20.500.11937/14289

Internet

http://hdl.handle.net/20.500.11937/14289

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