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Document type:
journal article 
Author(s):
Ramser, J; Ahearn, ME; Lenski, C; Yariz, KO; Hellebrand, H; von Rhein, M; Clark, RD; Schmutzler, RK; Lichtner, P; Hoffman, EP; Meindl, A; Baumbach-Reardon, L 
Title:
Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. 
Abstract:
X-linked infantile spinal muscular atrophy (XL-SMA) is an X-linked disorder presenting with the clinical features hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells and infantile death. To identify the XL-SMA disease gene, we performed large-scale mutation analysis in genes located between markers DXS8080 and DXS7132 (Xp11.3-Xq11.1). This resulted in detection of three rare novel variants in exon 15 of UBE1 that segregate with...    »
 
Journal title abbreviation:
Am J Hum Genet 
Year:
2008 
Journal volume:
82 
Journal issue:
Pages contribution:
188-93 
Language:
eng 
Print-ISSN:
0002-9297 
TUM Institution:
Frauenklinik und Poliklinik