A new point mutation in a hypoxanthine phosphoribosyltransferase-deficient patient

Pediatric Nephrology

Volumn 11, Issue 5, 1997, Pages 645-648

  Hidalgo Laos, Rosa I ^a   Kedar, Amos ^a   Williams, Charles A ^a   Neiberger, Richard E ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

Hyperuricemia; Hypoxanthine phosphoribosyltransferase; Lesch Nyhan syndrome; Macrocytosis; Urolithiasis

Indexed keywords

ARGININE; CYTOSINE; DNA; GUANINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; THREONINE; URIC ACID;

ABDOMINAL PAIN; AMINO ACID SUBSTITUTION; ANEMIA; ARTICLE; BONE MARROW DISEASE; CASE REPORT; CLINICAL FEATURE; CODON; CRYSTALLURIA; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; GENETIC ANALYSIS; GROWTH RETARDATION; HEMATURIA; HUMAN; HUMAN CELL; HYPERURICEMIA; HYPERURICOSURIA; INTELLECTUAL IMPAIRMENT; LYMPHOCYTE; MALE; MEGALOCYTOSIS; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; SPEECH DISORDER; URIC ACID STONE; UROLITHIASIS;

CHILD; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; KIDNEY CALCULI; LESCH-NYHAN SYNDROME; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; URINARY CALCULI;

EID: 0030774822     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004670050357     Document Type: Article

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