Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
about
Structural basis of fibrillar collagen trimerization and related genetic disorders.Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and XDominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathiesPhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report.Ophthalmic and molecular genetic findings in Kniest dysplasia.Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.The collagenopathies: review of clinical phenotypes and molecular correlations.Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.Czech dysplasia metatarsal type: another type II collagen disorder.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.Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the sameCOL2A1mutationNosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees
P2860
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P2860
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
description
2004 nî lūn-bûn
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2004年の論文
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name
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
@en
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
@nl
type
label
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
@en
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
@nl
prefLabel
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
@en
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
@nl
P2093
P356
P1476
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
@en
P2093
Nakashima E
Nishimura G
Shimamoto K
Shimamoto T
P356
10.1136/JMG.2003.013722
P407
P577
2004-01-01T00:00:00Z