An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans

Human Genetics

Volumn 99, Issue 1, 1996, Pages 8-10

  Fujimori, Shin ^a   Sakuma, Ryozo ^b   Yamaoka, Noriko ^a   Hakoda, Masayuki ^c   Yamanaka, Hisashi ^c   Kamatani, Naovuki ^c  

^a TEIKYO UNIVERSITY   (Japan)

^b TORANOMON HOSPITAL   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MUTANT PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME STRUCTURE; GERM LINE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; LESCH NYHAN SYNDROME; LYMPHOBLAST; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

FELIS CATUS;

EID: 0031060688     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050300     Document Type: Article

References (7)

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3. Fujimori S, Kamatani N, Nishida Y, Ogasawara N, Akaoka I (1990) Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese. Hum Genet 84:483-486
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