Functional Consequences of PRODH Missense Mutations

PRODH maps to 22q11 in the region deleted in the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) and encodes proline oxidase (POX), a mitochondrial inner-membrane enzyme that catalyzes the first step in the proline degradation pathway. At least 16 PRODH missense mutations have been identified...

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Bibliographic Details
Main Authors: Bender, Hans-Ulrich , Almashanu, Shlomo , Steel, Gary , Hu, Chien-An , Lin, Wei-Wen , Willis, Alecia , Pulver, Ann , Valle, David 
Format: Artigo
Language:Inglês
Published: American Society of Human Genetics 2005
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1196393/
https://ncbi.nlm.nih.gov/pubmed/15662599
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