Molecular Characterisation Of Mutations In Congenital Adrenal Hyperplasia In Indian Subjects.
Indian J Hum Genet
;
1998 Jan; 4(1): 106-107
Artigo
em Inglês
| IMSEAR
| ID: sea-159848
ABSTRACT
Congenital adrenal hyperplasia (CAH) is one of the most common outosomal recessive condition causing ambiguous genitalia in females. Often, it's a life threatening condition occurring with 1 in 5000 to 15000 live births and caused due to mutations in CYP21 gene encoding the enzyme 21-hydroxylase. 25 cases of CAH reporting at All India Institute of Medical Sciences, New Delhi, were analysed for mutations in the gene CYP21 and the results are discussed.
Texto completo:
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Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
1998
Tipo de documento:
Artigo
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