Associated Papers
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
Zhang RZ et al.
The Journal of Biological Chemistry, 2010
Autosomal recessive inheritance of classic Bethlem myopathy.
Foley AR et al.
Neuromuscular Disorders : Nmd, 2009
Predominant fiber atrophy and fiber type disproportion in early ullrich disease.
Schessl J et al.
Muscle & Nerve, 2008
The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells.
Lamandé SR et al.
The Journal of Biological Chemistry, 2006
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
Baker NL et al.
Human Molecular Genetics, 2005
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