Confirmation of the pathogenicity of a mutation p.G337C in the COL1A2 gene associated with osteogenesis imperfecta.

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Confirmation of the pathogenicity of a mutation p.G337C in the COL1A2 gene associated with osteogenesis imperfecta.

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2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

@zh-cn

name

Confirmation of the pathogenic ...... with osteogenesis imperfecta.

@en

Confirmation of the pathogenic ...... with osteogenesis imperfecta.

@nl

type

Item

label

Confirmation of the pathogenic ...... with osteogenesis imperfecta.

@en

Confirmation of the pathogenic ...... with osteogenesis imperfecta.

@nl

prefLabel

Confirmation of the pathogenic ...... with osteogenesis imperfecta.

@en

Confirmation of the pathogenic ...... with osteogenesis imperfecta.

@nl

P1476

Confirmation of the pathogenic ...... with osteogenesis imperfecta.

@en

P2093

Chao Xu

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Fang Yan

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Mingrui Jia

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Ranran Shi

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Tao Sun

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Wenbo Wang

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Xuejun Zhao

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Xuli Zhao

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Zhijian Fu

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Zhijing Bai

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Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation

Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.

Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta

The structure of fibrous proteins of the collagen-gelatin group

Type V osteogenesis imperfecta: a new form of brittle bone disease.

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen.

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e7783

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scholarly article

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10.1097/MD.0000000000007783

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English

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2017-09-01T00:00:00Z

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28953610

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P921

osteogenesis imperfecta

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5626253

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