A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein

Human Genetics

Volumn 102, Issue 2, 1998, Pages 197-202

  Taniguchi, Atsuo ^a   Hakoda, Masayuki ^a   Yamanaka, Hisashi ^a   Terai, Chihiro ^a   Hikiji, Keiji ^b   Kawaguchi, Ryuji ^b   Konishi, Noriko ^a   Kashiwazaki, Sadao ^c   Kamatani, Naoyuki ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b SRL INC   (Japan)

^c Kyoto Miniren Daini Chuo Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

2,8 DIHYDROXYADENINE; ADENINE PHOSPHORIBOSYLTRANSFERASE; POLYPEPTIDE;

ADULT; ARTICLE; CASE REPORT; ENZYME DEFICIENCY; EUKARYOTE; GENE MUTATION; GERM CELL; HUMAN; HUMAN CELL; MALE; NUCLEIC ACID BASE SUBSTITUTION; OPEN READING FRAME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEPLETION; STOP CODON; UROLITHIASIS;

EUKARYOTA; PROKARYOTA;

EID: 0031946731     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050677     Document Type: Article

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