An unexpected affected female patient in a classical Lesch-Nyhan family

Molecular Genetics and Metabolism

Volumn 69, Issue 3, 2000, Pages 263-268

  De Gregorio, L ^a   Nyhan, W L ^a   Serafin, E ^b   Chamoles, N A ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Foundation for the Study of Neurometabolic Disease   (Argentina)

Author keywords

Heterozygote; HPRT; Lesch Nyhan disease; Nonrandom X inactivation

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; DNA SYNTHESIS; ENZYME ACTIVITY; GENE EXPRESSION REGULATION; GENE LOCATION; GENETIC DISORDER; HUMAN; LESCH NYHAN SYNDROME; MALE; MOLECULAR CLONING; PRIORITY JOURNAL; PURINE METABOLISM; X CHROMOSOME INACTIVATION;

ARGENTINA (FISH);

EID: 0034063870     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.2967     Document Type: Article

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