The collagenopathies: review of clinical phenotypes and molecular correlations.
about
Endoplasmic Reticulum Stress and Unfolded Protein Response in Cartilage Pathophysiology; Contributing Factors to Apoptosis and Osteoarthritis.A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head.Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.Heritable Skeletal Disorders Arising from Defects in Processing and Transport of Type I Procollagen from the ER: Perspectives on Possible Therapeutic Approaches.Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies
P2860
The collagenopathies: review of clinical phenotypes and molecular correlations.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh-hant
name
The collagenopathies: review of clinical phenotypes and molecular correlations.
@en
type
label
The collagenopathies: review of clinical phenotypes and molecular correlations.
@en
prefLabel
The collagenopathies: review of clinical phenotypes and molecular correlations.
@en
P2093
P2860
P1476
The collagenopathies: review of clinical phenotypes and molecular correlations.
@en
P2093
Irene Lara-Corrales
L Ala-Kokko
Lucie Dupuis
Naomi Baker
Peter Kannu
Ravi Savarirayan
Rebekah Jobling
Roberto Mendoza-Londono
P2860
P2888
P356
10.1007/S11926-013-0394-3
P577
2014-01-01T00:00:00Z
P5875
P6179
1004368288