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Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII
- Source :
- American Journal of Human Genetics. Nov 12, 2010, Vol. 87 Issue 5, p713, 8 p.
- Publication Year :
- 2010
-
Abstract
- A consanguineous Israeli Bedouin kindred with autosomal-recessive hyperchlohidrosis characterized by the symptoms of visible salt precipitates after sweating, a preponderance to hyponatremic dehydration, and poor feeding and slow weight gain at infancy is reported. The findings from genome-wide linkage analysis demonstrated that the phenotype is attributed to a homozygous mutation in CA12, encoding carbonic anhydrase XII.
- Subjects :
- Bedouins -- Genetic aspects
Bedouins -- Physiological aspects
Dehydration (Physiology) -- Analysis
Gene mutations -- Analysis
Human genome -- Research
Linkage (Genetics) -- Analysis
Perspiration -- Health aspects
Perspiration -- Genetic aspects
Perspiration -- Demographic aspects
Biological sciences
Subjects
Details
- Language :
- English
- ISSN :
- 00029297
- Volume :
- 87
- Issue :
- 5
- Database :
- Gale General OneFile
- Journal :
- American Journal of Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- edsgcl.248002963