A cystic fibrosis patient who is homozygous for the A559T mutation
Journal Article
·
· American Journal of Human Genetics
OSTI ID:110964
- Oxford Univ. (United Kingdom)
- UMDS-Guy`s Campus, London (United Kingdom); and others
We have recently defined a cystic fibrosis (CF) patient who is homozygous for the A559T mutation in exon 11 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This mutation was detected by direct sequence analysis and confirmed to be carried by both parents (of West Indian origin) of the index case. The A559T mutation has not been detected in any Caucasian CF patients. The presence of this mutation in North American black CF patients and a British CF patient of West Indian origin is clearly of interest in designing CF screening tests that are tailored to specific ethnic groups. 1 ref.
- OSTI ID:
- 110964
- Journal Information:
- American Journal of Human Genetics, Vol. 57, Issue 3; Other Information: PBD: Sep 1995
- Country of Publication:
- United States
- Language:
- English
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