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Volumn 516, Issue 2, 2013, Pages 316-319
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Identification and analysis of a novel mutation in PEPD gene in two Kashmiri siblings with prolidase enzyme deficiency
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Author keywords
Chronic leg ulcer; Iminodipeptiduria; Insertion mutation; PEPD gene; Prolidase deficiency
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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;
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EID: 84873254221
PISSN: 03781119
EISSN: 18790038
Source Type: Journal
DOI: 10.1016/j.gene.2012.12.070 Document Type: Article |
Times cited : (8)
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References (9)
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