Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms.
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New perspectives for the elucidation of genetic disordersMutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndromeA novel zinc finger protein 219-like (ZNF219L) is involved in the regulation of collagen type 2 alpha 1a (col2a1a) gene expression in zebrafish notochordMutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.Stickler syndrome associated with epilepsy: report of three cases.Phenotypic characterization of patients with early-onset high myopia due to mutations in or : Why not Stickler syndrome?
P2860
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P2860
Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms.
description
2007 nî lūn-bûn
@nan
2007年の論文
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年學術文章
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2007年學術文章
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2007年學術文章
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name
Missense and silent mutations ...... ifferent molecular mechanisms.
@en
Missense and silent mutations ...... ifferent molecular mechanisms.
@nl
type
label
Missense and silent mutations ...... ifferent molecular mechanisms.
@en
Missense and silent mutations ...... ifferent molecular mechanisms.
@nl
prefLabel
Missense and silent mutations ...... ifferent molecular mechanisms.
@en
Missense and silent mutations ...... ifferent molecular mechanisms.
@nl
P2093
P356
P1433
P1476
Missense and silent mutations ...... ifferent molecular mechanisms.
@en
P2093
Allan J Richards
Arabella V Poulson
John D Scott
Martin P Snead
Maureen Laidlaw
Pallavi Shankar
Sarah P Meredith
P356
10.1002/HUMU.9497
P577
2007-06-01T00:00:00Z