A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency

Journal of Human Genetics

Volumn 45, Issue 2, 2000, Pages 102-104

  Kikuchi, Shintaro ^a,c   Tanoue, Akito ^a   Endo, Fumio ^b   Wakasugi, Shoji ^b   Matsuo, Nobutake ^c   Tsujimoto, Gozoh ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^c KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Mutation; Nonsense mutation; PEPD; Polymorphism; Prolidase deficiency

Indexed keywords

AMINO ACID; DNA; POLYPEPTIDE; PROLINE DIPEPTIDASE; RNA;

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; JAPAN; PHENOTYPE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN FIBROBLAST;

EID: 0034017280     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050023     Document Type: Article

References (12)

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