A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
about
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutationThe 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 dysplasiaOphthalmic and molecular genetic findings in Kniest dysplasia.Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.Molecular defects in the chondrodysplasias.Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.Mandibular Distraction in a Patient With Type II Collagenopathy.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.Association between Kniest dysplasia and chondrosarcoma in a child.A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.
P2860
Q28262263-92DCD162-341E-43B7-BF6E-90F3AC866999Q33677641-5065D2B8-268D-4616-83A3-6310CA085786Q36752264-F633BCBB-046C-4611-8D99-71E97C1C16CEQ38600849-8014B3FE-BB8A-4BFF-A77D-C0A95DA072C7Q41045374-4598A2BD-6075-4BCE-B128-D20C38DC6E2FQ41735203-45976DDB-A767-4763-B1A5-6599E813CCE7Q45949176-6D71B1F9-669B-4B82-8C79-C6962F06B044Q51527474-A6C8BBE8-904C-42CF-B66E-048C680BA7F3Q52720562-92A5128B-2294-4254-8A55-C35F41202E4EQ53354589-9ADBBACF-3992-4DD1-AD17-D8C540F13993Q53513559-77AF40FC-59E4-423E-8B40-E8F5B28928A3
P2860
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
description
1994 nî lūn-bûn
@nan
1994年の論文
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1994年学术文章
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1994年学术文章
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1994年学术文章
@zh-cn
1994年学术文章
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1994年学术文章
@zh-my
1994年学术文章
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1994年學術文章
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1994年學術文章
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name
A single amino acid substituti ...... lix produces Kniest dysplasia.
@en
A single amino acid substitution
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type
label
A single amino acid substituti ...... lix produces Kniest dysplasia.
@en
A single amino acid substitution
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prefLabel
A single amino acid substituti ...... lix produces Kniest dysplasia.
@en
A single amino acid substitution
@nl
P2093
P356
P1476
A single amino acid substituti ...... lix produces Kniest dysplasia.
@en
P2093
P304
P356
10.1093/HMG/3.11.1999
P577
1994-11-01T00:00:00Z