Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females

Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females

The mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene has been determined in two brothers affected with Lesch-Nyhan syndrome. Female members of the family who are at risk for being heterozygous carriers of the HPRT mutation were also studied to determine whether they carry t...

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Bibliographic Details
Main Authors: PATRICK O'NEILL, LUCY TROMBLEY, MARY GUNDEL, TIMOTHY HUNTER, JANICE A. NICKLAS, MARA LUCIA S. FERREIRA, MARIA JULIA BUGALLO, ANTÔNIO CARLOS FARIAS, ALFREDO LOHR, MERI DIAMANTOPOULOS, SALMO RASKIN
Format: Article
Language:English
Published: Thieme Revinter Publicações 1999-12-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
Lesch-Nyhan syndrome
DNA
HPRT
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000600001&tlng=en
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