Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
about
Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case reportThe chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta.Pharmacological and biological therapeutic strategies for osteogenesis imperfecta.BMP1-like proteinases are essential to the structure and wound healing of skin.Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.The genetic implication of scoliosis in osteogenesis imperfecta: a review.Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development.Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.Genetic causes and mechanisms of Osteogenesis Imperfecta.Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation.
P2860
Q36296949-3790FDD6-2B79-4DC0-BB01-5E8CF9694D5EQ38802051-3301573F-AD22-4D8C-899F-A33D0CB850B6Q38998578-B1337B20-F4E3-4A01-ADE8-1FE83745BA52Q45734921-D96E0429-3E05-461A-AD67-E872F87B33E1Q48278400-2D810600-8D52-4098-955C-6359A991D071Q49363861-69BC0063-4917-40F5-BDA1-FCEAB7989DAAQ50996851-689DF2B1-52CB-43BB-907E-C777AC850CF0Q52580203-354F3D1A-3C2D-40BB-901D-BBEF76B83560Q52679260-24B7BB3D-4E9B-4A16-980B-BACE6BEC3973Q52865674-ACF6FA16-18ED-4BF8-B6C7-65FBEEE2A1DC
P2860
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh-hant
name
Identification and in vivo fun ...... ts in osteogenesis imperfecta.
@en
Identification and in vivo fun ...... ts in osteogenesis imperfecta.
@nl
type
label
Identification and in vivo fun ...... ts in osteogenesis imperfecta.
@en
Identification and in vivo fun ...... ts in osteogenesis imperfecta.
@nl
prefLabel
Identification and in vivo fun ...... ts in osteogenesis imperfecta.
@en
Identification and in vivo fun ...... ts in osteogenesis imperfecta.
@nl
P2093
P2860
P356
P1433
P1476
Identification and in vivo fun ...... nts in osteogenesis imperfecta
@en
P2093
Aritoshi Iida
Chang-Seok Ki
Dong-Kyu Jin
Geehay Hong
Gen Nishimura
Naomichi Matsumoto
Noriko Miyake
Ok-Hwa Kim
P V Asharani
P2860
P304
P356
10.1002/HUMU.22731
P577
2015-02-01T00:00:00Z