Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: Identification of nine novel mutations

Journal of Inherited Metabolic Disease

Volumn 27, Issue 6, 2004, Pages 767-773

  Bertelli, M ^a   Randi, D ^a   Micheli, V ^b   Gallo, S ^a   Andrighetto, G ^a   Parmigiani, P ^a   Jacomelli, G ^b   Carella, M ^a,c   Lievore, C ^a   Pandolfo, Massimo ^d  

^a BIRD Foundation Onlus   (Italy)

^b UNIVERSITY OF SIENA   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d ERASME HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; AMINO ACID; ARGININE; CYTOSINE; GLYCINE; GUANINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LEUCINE; PHENYLALANINE; PROLINE; THYMINE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; BIOCHEMISTRY; CHILD; CHROMOSOME BAND; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; ENZYME ACTIVITY; ETHNOLOGY; FAMILY; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; INFANT; ITALY; LESCH NYHAN SYNDROME; MISSENSE MUTATION; MOLECULAR GENETICS; MOTHER; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; RELATIVE;

ADOLESCENT; ADULT; DNA; EXONS; FEMALE; GENE DELETION; HETEROZYGOTE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; ITALY; LESCH-NYHAN SYNDROME; LYMPHOCYTES; MALE; MIDDLE AGED; MUTATION;

EID: 7244240725     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000045799.78633.23     Document Type: Article

References (10)

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