Identification and analysis of a novel mutation in PEPD gene in two Kashmiri siblings with prolidase enzyme deficiency

Gene

Volumn 516, Issue 2, 2013, Pages 316-319

  Pandit, Riyaz Ahmad ^a   Chen, Chun Jung ^b   Butt, Tariq Ahmad ^a   Islam, Naquibul ^a  

^a Hazrat Bal Kashmir University Campus   (India)

^b NATIONAL SYNCHROTRON RADIATION RESEARCH CENTER   (Taiwan)

Author keywords

Chronic leg ulcer; Iminodipeptiduria; Insertion mutation; PEPD gene; Prolidase deficiency

Indexed keywords

HYDROGEN; PROLINE DIPEPTIDASE;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; COMPUTER MODEL; ENZYME ACTIVITY; ENZYME STRUCTURE; FEMALE; GENE; GENE MUTATION; HUMAN; HYDROGEN BOND; METAL BINDING; PAROXYSMAL EXTREME PAIN DISORDER GENE; PRIORITY JOURNAL; PROLIDASE DEFICIENCY; PROTEIN SECONDARY STRUCTURE; SCHOOL CHILD; SIBLING;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; DIPEPTIDASES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INDIA; MUTAGENESIS, INSERTIONAL; PEDIGREE; PROLIDASE DEFICIENCY; SIBLINGS;

EID: 84873254221     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.12.070     Document Type: Article

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