Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 692, Issue 1-2, 2010, Pages 1-5

  de Gemmis, Paola ^a   Anesi, Laura ^a   Lorenzetto, Elisa ^a   Gioachini, Ilenia ^a   Fortunati, Elisabetta ^a   Zandonà, Gessica ^a   Fanin, Erika ^a   Fairbanks, Lynette ^b   Andrighetto, Gilberto ^a   Parmigiani, Pietro ^a   Dolcetta, Diego ^a   Nyhan, William L ^c   Hladnik, Uros ^a  

^a BIRD Foundation Onlus   (Italy)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

HPRT; HPRT1; Lesch Nyhan disease; Lesch Nyhan syndrome

Indexed keywords

ARGININE; COMPLEMENTARY DNA; GENOMIC DNA; GLUTAMIC ACID; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LEUCINE; PHENYLALANINE; PROLINE; SERINE; THREONINE;

ALLELE; AMINO ACID SUBSTITUTION; BIOCHEMISTRY; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; ENZYME ACTIVITY; FAMILY STUDY; FEMALE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; LESCH NYHAN SYNDROME; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RELIABILITY; SHORT SURVEY;

FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; ITALY; LESCH-NYHAN SYNDROME; MALE; MUTATION;

EID: 77957163748     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2010.07.003     Document Type: Short Survey

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