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

Binh Ho Duy; Lidiia Zhytnik; Katre Maasalu; Ivo Kändla; Ele Prans; Ene Reimann; Aare Märtson; Sulev Kõks

doi:10.1186/s40246-016-0083-1

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

Binh Ho Duy, Lidiia Zhytnik, Katre Maasalu, Ivo Kändla, Ele Prans, Ene Reimann, Aare Märtson, Sulev Kõks

Research output: Contribution to journal › Article › Academic › peer-review

31 Citations (Scopus)

Abstract

BACKGROUND: The genetics of osteogenesis imperfecta (OI) have not been studied in a Vietnamese population before. We performed mutational analysis of the COL1A1 and COL1A2 genes in 91 unrelated OI patients of Vietnamese origin. We then systematically characterized the mutation profiles of these two genes which are most commonly related to OI.

Original language	English
Pages (from-to)	27
Journal	Human genomics
Volume	10
Issue number	1
DOIs	https://doi.org/10.1186/s40246-016-0083-1
Publication status	Published - 12 Aug 2016
Externally published	Yes

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10.1186/s40246-016-0083-1

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title = "Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta",

abstract = "BACKGROUND: The genetics of osteogenesis imperfecta (OI) have not been studied in a Vietnamese population before. We performed mutational analysis of the COL1A1 and COL1A2 genes in 91 unrelated OI patients of Vietnamese origin. We then systematically characterized the mutation profiles of these two genes which are most commonly related to OI.",

author = "{Ho Duy}, Binh and Lidiia Zhytnik and Katre Maasalu and Ivo K{\"a}ndla and Ele Prans and Ene Reimann and Aare M{\"a}rtson and Sulev K{\~o}ks",

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AU - Ho Duy, Binh

AU - Zhytnik, Lidiia

AU - Maasalu, Katre

AU - Kändla, Ivo

AU - Prans, Ele

AU - Reimann, Ene

AU - Märtson, Aare

AU - Kõks, Sulev

PY - 2016/8/12

Y1 - 2016/8/12

N2 - BACKGROUND: The genetics of osteogenesis imperfecta (OI) have not been studied in a Vietnamese population before. We performed mutational analysis of the COL1A1 and COL1A2 genes in 91 unrelated OI patients of Vietnamese origin. We then systematically characterized the mutation profiles of these two genes which are most commonly related to OI.

AB - BACKGROUND: The genetics of osteogenesis imperfecta (OI) have not been studied in a Vietnamese population before. We performed mutational analysis of the COL1A1 and COL1A2 genes in 91 unrelated OI patients of Vietnamese origin. We then systematically characterized the mutation profiles of these two genes which are most commonly related to OI.

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UR - https://www.ncbi.nlm.nih.gov/pubmed/27519266

U2 - 10.1186/s40246-016-0083-1

DO - 10.1186/s40246-016-0083-1

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JO - Human genomics

JF - Human genomics

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

Abstract

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