Your browser version may not work well with NCBI's Web applications. More information here...
1: Hum Mol Genet. 1995 Feb;4(2):315-8.Click here to read Links

Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.

Department of Biochemistry, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.

PMID: 7757088 [PubMed - indexed for MEDLINE]