The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases

Mutation Research - Reviews in Mutation Research

Volumn 463, Issue 3, 2000, Pages 309-326

  Jinnah, H A ^a   De Gregorio, Laura ^b   Harris, James C ^a   Nyhan, William L ^b   O'Neill, J Patrick ^c  

^a DEPARTMENT OF PATHOLOGY   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF VERMONT   (United States)

Author keywords

HPRT, hypoxanthine guanine phosphoribosyltransferase; HRH, HPRT related hyperuricemia; HRND, HPRT related neurologic dysfunction; LND, Lesch Nyhan disease; LNV, Lesch Nyhan variants; NA, not available; NS, not specified

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

AMINO ACID SUBSTITUTION; CHROMOSOME XQ; DISEASE SEVERITY; ENZYME ACTIVITY; GENE DELETION; GENE DUPLICATION; GENOTYPE; HUMAN; INHERITANCE; LESCH NYHAN SYNDROME; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; REVIEW; RNA SPLICING;

EID: 0033799868     PISSN: 13835742     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1383-5742(00)00052-1     Document Type: Article

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