Genotype-phenotype study in type V osteogenesis imperfecta.
about
Managing the patient with osteogenesis imperfecta: a multidisciplinary approach.Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type VClinical and Molecular Characterization of Osteogenesis Imperfecta Type V.IFITMs restrict the replication of multiple pathogenic virusesIFITM5 mutations and osteogenesis imperfecta.PHENOTYPIC VARIABILITY IN INDIVIDUALS WITH TYPE V OSTEOGENESIS IMPERFECTA WITH IDENTICAL IFITM5 MUTATIONS.Bone Material Properties in Osteogenesis Imperfecta.A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V.Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation.Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V.
P2860
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P2860
Genotype-phenotype study in type V osteogenesis imperfecta.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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name
Genotype-phenotype study in type V osteogenesis imperfecta.
@en
Genotype-phenotype study in type V osteogenesis imperfecta.
@nl
type
label
Genotype-phenotype study in type V osteogenesis imperfecta.
@en
Genotype-phenotype study in type V osteogenesis imperfecta.
@nl
prefLabel
Genotype-phenotype study in type V osteogenesis imperfecta.
@en
Genotype-phenotype study in type V osteogenesis imperfecta.
@nl
P2093
P50
P1476
Genotype-phenotype study in type V osteogenesis imperfecta
@en
P2093
Ann Dalton
Bart E Wagner
Luiz C Peres
Michael J Parker
Nicholas J Bishop
Paul Arundel
Uschi Lindert
P304
P356
10.1097/MCD.0B013E32836032F0
P577
2013-07-01T00:00:00Z