A novel heterozygous deletion–insertion mutation (2695–2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family

Title
A novel heterozygous deletion–insertion mutation (2695–2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family
Authors
Keywords
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Journal
NEUROMUSCULAR DISORDERS
Volume 20, Issue 6, Pages 390-396
Publisher
Elsevier BV
Online
2010-04-23
DOI
10.1016/j.nmd.2010.03.009

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