(Q72650573)
Statements
Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy (English)
De Meirleir L
Lissens W
Benelli C
Ponsot G
Desguerre I
Marsac C
Rodriguez D
Saudubray JM
Poggi F
1 December 1994