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Hum Mol Genet. 1995 Feb;4(2):315-8.

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

Author information

1
Department of Biochemistry, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
PMID:
7757088
DOI:
10.1093/hmg/4.2.315
[Indexed for MEDLINE]

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