Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis

Item
http://www.wikidata.org/entity/Q28143613
The 10+4 microfibril structure of thin cartilage fibrilsLethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1A histological and ultrastructural study of femoral head cartilage in a new type II collagenopathyRB1CC1 protein suppresses type II collagen synthesis in chondrocytes and causes dwarfismChildhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).Disorders of the growth plate.Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.A novel retinoic acid-response element requires an enhancer element mediator for transcriptional activation.Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.A Shared Epitope of Collagen Type XI and Type II Is Recognized by Pathogenic Antibodies in Mice and Humans with Arthritis.Clinical Correlate: Osteogenesis ImperfectaExome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
P2860

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis

Item
http://www.wikidata.org/entity/Q28143613
description
2000 nî lūn-bûn
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2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2000 թվականի մայիսին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
@zh-hk
2000年論文
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2000年論文
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2000年论文
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name
Widely distributed mutations i ...... sis type II/hypochondrogenesis
@ast
Widely distributed mutations i ...... sis type II/hypochondrogenesis
@en
Widely distributed mutations i ...... sis type II/hypochondrogenesis
@nl
type
label
Widely distributed mutations i ...... sis type II/hypochondrogenesis
@ast
Widely distributed mutations i ...... sis type II/hypochondrogenesis
@en
Widely distributed mutations i ...... sis type II/hypochondrogenesis
@nl
prefLabel
Widely distributed mutations i ...... sis type II/hypochondrogenesis
@ast
Widely distributed mutations i ...... sis type II/hypochondrogenesis
@en
Widely distributed mutations i ...... sis type II/hypochondrogenesis
@nl
P1433
P1476
P2093
P2860
P304
P31
P3181
P356
P407
P433
P478
P577
P698
P3181
P356
P1433
P1476
Widely distributed mutations i ...... sis type II/hypochondrogenesis
@en
P2093
P2860
P304
P31
P3181
P356
10.1002/(SICI)1096-8628(20000515)92:2<95::AID-AJMG3>3.0.CO;2-9
P407
P433
P478
P577
P698