Mutation Carrier Testing in Lesch-Nyhan Syndrome Families: HPRT Mutant Frequency and Mutation Analysis with Peripheral Blood T Lymphocytes

Genetic Testing

Volumn 8, Issue 1, 2004, Pages 51-64

  O'Neill, J Patrick ^a  

^a UNIVERSITY OF VERMONT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PURINE DERIVATIVE; TIOGUANINE;

ALLELE; ARTICLE; CHROMOSOME MUTATION; CLINICAL GENETICS; FAMILY; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; HETEROZYGOTE; HPRT GENE; HUMAN; HUMAN CELL; IN VIVO STUDY; LESCH NYHAN SYNDROME; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PATHOGENESIS; PERIPHERAL LYMPHOCYTE; SAMPLING; T LYMPHOCYTE; X CHROMOSOME; X CHROMOSOME INACTIVATION;

FEMALE; GENE FREQUENCY; GENETIC SCREENING; HETEROZYGOTE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MALE; MUTATION; T-LYMPHOCYTES;

EID: 1942530780     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065704323016030     Document Type: Article

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