The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia
about
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutationHeterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)Ophthalmic and molecular genetic findings in Kniest dysplasia.Kniest Dysplasia: New Radiographic Features in the Skeleton.Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.
P2860
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia
description
1996 nî lūn-bûn
@nan
1996 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
The deletion of six amino acid ...... in COL2A1 and Kniest dysplasia
@ast
The deletion of six amino acid ...... in COL2A1 and Kniest dysplasia
@en
type
label
The deletion of six amino acid ...... in COL2A1 and Kniest dysplasia
@ast
The deletion of six amino acid ...... in COL2A1 and Kniest dysplasia
@en
prefLabel
The deletion of six amino acid ...... in COL2A1 and Kniest dysplasia
@ast
The deletion of six amino acid ...... in COL2A1 and Kniest dysplasia
@en
P2093
P2860
P356
P1476
The deletion of six amino acid ...... in COL2A1 and Kniest dysplasia
@en
P2093
Schwarze U
Spranger J
Steinmann B
Superti-Furga A
Winterpacht A
P2860
P304
P356
10.1136/JMG.33.8.649
P407
P577
1996-08-01T00:00:00Z