Czech dysplasia: report of a large family and further delineation of the phenotype.
about
Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and XTwo novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.Early childhood presentation of Czech dysplasia.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.
P2860
Czech dysplasia: report of a large family and further delineation of the phenotype.
description
2008 nî lūn-bûn
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2008年の論文
@ja
2008年学术文章
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2008年学术文章
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2008年学术文章
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2008年学术文章
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2008年学术文章
@zh-my
2008年学术文章
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2008年學術文章
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2008年學術文章
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name
Czech dysplasia: report of a large family and further delineation of the phenotype.
@en
Czech dysplasia: report of a large family and further delineation of the phenotype.
@nl
type
label
Czech dysplasia: report of a large family and further delineation of the phenotype.
@en
Czech dysplasia: report of a large family and further delineation of the phenotype.
@nl
prefLabel
Czech dysplasia: report of a large family and further delineation of the phenotype.
@en
Czech dysplasia: report of a large family and further delineation of the phenotype.
@nl
P2093
P356
P1476
Czech dysplasia: report of a large family and further delineation of the phenotype.
@en
P2093
Andreas Tzschach
Elke Kaminsky
Eugen Lusga
Luitgard M Graul-Neumann
Sigrid Tinschert
Stefan Mundlos
P304
P356
10.1002/AJMG.A.32389
P407
P577
2008-07-01T00:00:00Z