A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency

Hum Mutat. 1995;6(3):274-5. doi: 10.1002/humu.1380060317.

Authors

F Takakubo¹, D R Thorburn, R M Brown, G K Brown, H H Dahl

Affiliation

¹ Murdoch Institute for Research Into Birth Defects, Royal Children's Hospital, Parkville, Melbourne, Victoria 3052, Australia.

PMID: 8535453
DOI: 10.1002/humu.1380060317

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Female
Humans
Infant
Mutation
Pyruvate Dehydrogenase Complex / genetics*
Pyruvate Dehydrogenase Complex Deficiency Disease / genetics*

Substances

Pyruvate Dehydrogenase Complex