Lesch-Nyhan Syndrome: MRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA

Molecular Genetics and Metabolism

Volumn 106, Issue 4, 2012, Pages 498-501

  Nguyen, Khue Vu ^a,b   Naviaux, Robert K ^a,b   Paik, Kacie K ^a   Nyhan, William L ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

HPRT; Lesch Nyhan syndrome; Mutation; PCR; Real time RT PCR; Sequencing

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MESSENGER RNA;

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME DEFICIENCY; FIBROBLAST CULTURE; GENE MUTATION; GENETIC CODE; HUMAN; HUMAN CELL; HUMAN TISSUE; LESCH NYHAN SYNDROME; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADOLESCENT; DNA; ENZYME ASSAYS; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENOME, HUMAN; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MALE; MIDDLE AGED; OPEN READING FRAMES; REFERENCE STANDARDS; REGULATORY SEQUENCES, NUCLEIC ACID; RNA, MESSENGER;

EID: 84864327093     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.06.003     Document Type: Article

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