A nonsense mutation of PEPD in four amish children with prolidase deficiency

American Journal of Medical Genetics

Volumn 140 A, Issue 6, 2006, Pages 580-585

  Wang, Heng ^a,d,g   Kurien, Biji T ^b   Lundgren, David ^c   Patel, Nisha C ^b   Kaufman, K M ^b   Miller, David L ^b   Porter, Andrew C ^b   D'Souza, Anil ^b   Nye, Leah ^a   Tumbush, John ^a,e   Hupertz, Vera ^f   Kerr, Douglas S ^d   Kurono, S ^b   Matsumoto, H ^b   Scofield, R Hal ^b  

^a Das Deutsch Center (DDC) Clinic for Special Needs Children   (United States)

^b UNIVERSITY OF OKLAHOMA HEALTH SCIENCES CENTER   (United States)

^c METROHEALTH MEDICAL CENTER   (United States)

^d CASE WESTERN RESERVE UNIVERSITY   (United States)

^e CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f LERNER RESEARCH INSTITUTE   (United States)

^g DDC Clinic for Special Needs Children   (United States)

Author keywords

Amish; Imidodipeptiduria; Nonsense mutation; PEPD; Prolidase deficiency

Indexed keywords

ASPARTATE AMINOTRANSFERASE; DNA; HYDROXYPROLINE; OLIGOPEPTIDE; PROLINE; PROLINE DIPEPTIDASE;

ADULT; AMISH; ARTICLE; BRONCHUS HYPERREACTIVITY; CATALYSIS; CHILD; CHROMOSOME 19Q; CLINICAL ARTICLE; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; GENE; GENE LOCATION; HEPATOSPLENOMEGALY; HUMAN; HYDROLYSIS; HYPERIMMUNOGLOBULINEMIA; MALE; NONSENSE MUTATION; PEPD GENE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROLINE DIPEPTIDASE DEFICIENCY; PROTEINURIA; RECURRENT INFECTION; SKIN ULCER; STOP CODON; THROMBOCYTOPENIA; UNITED STATES;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHILD; CODON, NONSENSE; DIPEPTIDASES; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; FAMILY HEALTH; FEMALE; HEPATOMEGALY; HUMANS; MALE; PEDIGREE; SKIN ULCER; SPLENOMEGALY;

EID: 33644852838     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31134     Document Type: Article

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