Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
about
Diagnostic approach to the congenital muscular dystrophies.Human adipose-derived stem cell transplantation as a potential therapy for collagen VI-related congenital muscular dystrophyCollagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophyAberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.ColVI myopathies: where do we stand, where do we go?The collagen VI-related myopathies: muscle meets its matrix.Detecting collagen VI in Bethlem myopathy.
P2860
Q30767612-24D1FAD4-2193-45F2-B2F3-49BD4CEF70C5Q33745931-D6753FED-6707-4BA9-8A01-CB07747933C4Q34236492-421B4522-E758-4897-B42E-9866BADE688DQ35080325-72601553-5D11-405A-90D5-9D99D50B9950Q35290709-8D1A4659-8231-4503-AA55-96920841F3F1Q37555710-2EBD7BD4-6145-4AAE-8945-178EEF05B0F5Q43195444-1264484B-73B0-47D7-AAEE-BC2939622401
P2860
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
description
2010 nî lūn-bûn
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2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Recessive COL6A2 C-globular mi ...... ole of the C2a splice variant.
@ast
Recessive COL6A2 C-globular mi ...... ole of the C2a splice variant.
@en
type
label
Recessive COL6A2 C-globular mi ...... ole of the C2a splice variant.
@ast
Recessive COL6A2 C-globular mi ...... ole of the C2a splice variant.
@en
prefLabel
Recessive COL6A2 C-globular mi ...... ole of the C2a splice variant.
@ast
Recessive COL6A2 C-globular mi ...... ole of the C2a splice variant.
@en
P2093
P2860
P356
P1476
Recessive COL6A2 C-globular mi ...... role of the C2a splice variant
@en
P2093
Andrzej Fertala
Carsten G Bönnemann
Dessislava Markova
Mon-Li Chu
Rui-Zhu Zhang
Te-Cheng Pan
Umbertina Conti Reed
P2860
P304
10005-10015
P356
10.1074/JBC.M109.093666
P407
P577
2010-01-27T00:00:00Z