Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.
Takahata T; Yamada K; Yamada Y; Ono S; Kinoshita A; Matsuzaka T; Yoshiura K; Kitaoka T; Journal Of Human Genetics, 2010, vol. 55, issue 3, p 142, ISSN 1435232x. ISBN 1435232x.

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