Lesch-Nyhan disease in a female with a clinically normal monozygotic twin

Molecular Genetics and Metabolism

Volumn 85, Issue 1, 2005, Pages 70-77

  De Gregorio, Laura ^a,d   Jinnah, H A ^b   Harris, James C ^b   Nyhan, William L ^a   Schretlen, David J ^b   Trombley, Lucy M ^c   O'Neill, J Patrick ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c UNIVERSITY OF VERMONT   (United States)

^d Laboratorio di Genetica Molecolare   (Italy)

Author keywords

HPRT mutation; Lesch Nyhan disease; Monozygotic twins; X inactivation

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ADULT; ALLELE; ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; FIBROBLAST; GENE EXPRESSION; GENE FREQUENCY; HETEROZYGOTE; HUMAN; HUMAN CELL; LESCH NYHAN SYNDROME; MONOZYGOTIC TWINS; MUTANT; MUTATIONAL ANALYSIS; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PRIORITY JOURNAL; T LYMPHOCYTE; TWIN DISCORDANCE; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

EID: 18044393409     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.11.009     Document Type: Article

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