A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents.

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A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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A novel de novo COL1A1 mutatio ...... orn to consanguineous parents.

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A novel de novo COL1A1 mutatio ...... orn to consanguineous parents.

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label

A novel de novo COL1A1 mutatio ...... orn to consanguineous parents.

@en

A novel de novo COL1A1 mutatio ...... orn to consanguineous parents.

@nl

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A novel de novo COL1A1 mutatio ...... orn to consanguineous parents.

@en

A novel de novo COL1A1 mutatio ...... orn to consanguineous parents.

@nl

P1476

A novel de novo COL1A1 mutatio ...... orn to consanguineous parents.

@en

P2093

Apiruk Sangsin

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Kanya Suphapeetiporn

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Siraprapa Tongkobpetch

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P2860

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

Exome sequencing identifies the cause of a mendelian disorder

Nonsense-mediated mRNA decay: inter-individual variability and human 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.

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta

Recessive osteogenesis imperfecta caused by missense mutations in SPARC.

Intravenous pamidronate treatment of infants with severe osteogenesis imperfecta.

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

P304

763-767

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P31

scholarly article

P356

10.1590/1678-4685-GMB-2016-0033

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P433

http://www.w3.org/2001/XMLSchema#string

P478

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P50

Thantrira Porntaveetus

Noppachart Limpaphayom

Vorasuk Shotelersuk

P577

2017-09-21T00:00:00Z

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P698

28956891

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P921

osteogenesis imperfecta

An Téalainn

P932

5738616

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