Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus

Human Mutation

Volumn 23, Issue 6, 2004, Pages 599-611

  Duan, Jianxin ^a   Nilsson, Lennart ^a   Lambert, Bo ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Function; HGPRT; HPRT; HPRT1; Lesch Nyhan syndrome; LND; LNS; Mutation analysis; Structure

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; TIOGUANINE;

AMINO ACID SUBSTITUTION; ARTICLE; CATALYSIS; ENZYME SPECIFICITY; GENE LOCUS; GENE MUTATION; HUMAN; HYPERURICEMIA; LESCH NYHAN SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; UNINDEXED SEQUENCE;

AMINO ACID SEQUENCE; DRUG RESISTANCE; GERM-LINE MUTATION; HUMANS; HYPERURICEMIA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; STRUCTURE-ACTIVITY RELATIONSHIP; THIOGUANINE;

EUKARYOTA; PROTOZOA;

EID: 2642530434     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20047     Document Type: Article

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