The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in french families; report of two novel mutations

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Liu, Guang ^a   Aral, Bernard ^a   Zabot, Marie Thérèse ^b   Kamoun, Pierre ^a   Ceballos Picot, Irène ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL DEBROUSSE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ARTICLE; CELL CULTURE; CHEMISTRY; ENZYMOLOGY; FAMILY HEALTH; FRAMESHIFT MUTATION; FRANCE; GENE DELETION; GENETICS; HUMAN; LESCH NYHAN SYNDROME; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; CLINICAL ARTICLE; ENZYME DEFICIENCY; GENE MUTATION; GOUT; HUMAN CELL; HYPERURICEMIA; HYPERURICOSURIA; MOLECULAR GENETICS; NEUROLOGICAL COMPLICATION; PRIORITY JOURNAL; URIC ACID STONE;

BASE SEQUENCE; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FAMILY HEALTH; FRAMESHIFT MUTATION; FRANCE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MUTATION; MUTATION, MISSENSE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 18144448736     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110130     Document Type: Article

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