Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille)

Journal of Inherited Metabolic Disease

Volumn 27, Issue 4, 2004, Pages 543-545

  Dussol, B ^a   Ceballos Picot, I ^b   Aral, B ^b   Castera, V ^a   Philip, N ^c   Berland, Y ^a  

^a HÔPITAL DE LA CONCEPTION   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; RNA;

ADULT; ARTICLE; BINDING SITE; BLOOD ANALYSIS; CASE REPORT; CELLULAR DISTRIBUTION; CHRONIC KIDNEY FAILURE; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME LOCALIZATION; ERYTHROCYTE; GENE MUTATION; GENETIC VARIABILITY; GOUT; HUMAN; HYPERURICEMIA; INTERSTITIAL NEPHRITIS; KELLEY SEEGMILLER SYNDROME; MALE; NEUROLOGIC DISEASE; POLYMERASE CHAIN REACTION; PROTEIN BINDING; RADIODENSITOMETRY; RNA EXTRACTION;

ARTHRITIS, GOUTY; BINDING SITES; ERYTHROCYTES; FRANCE; HUMANS; HYPERURICEMIA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LYMPHOCYTES; MALE; MIDDLE AGED; MUTATION; SYNDROME;

EID: 4344562978     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000037399.72152.a9     Document Type: Article

References (9)

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