A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a...

A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis

Siôn L Williams, Jan-Willem Taanman, Hana Hansı́ková, Hana Houšt'ková, Subir Chowdhury, Jiřı́ Zeman, Josef Houštěk
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Volume:
73
Year:
2001
Language:
english
Pages:
344
DOI:
10.1006/mgme.2001.3206
File:
PDF, 101 KB
english, 2001
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