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Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family.

作者信息

Liu Hong-Yan, Huang Jia, Wu Dong, Li Tao, Guo Liang-Jie, Guo Qian-Nan, Wang Hong-Dan, Wang Rui-Li, Wang Yue

机构信息

Department of Medical Genetics Institute, People's Hospital of Zhenzhou University (Henan Provincial People's Hospital), Zhenzhou, Henan 450053, China.

出版信息

Chin Med J (Engl). 2016 Jan 5;129(1):88-91. doi: 10.4103/0366-6999.172600.

DOI:10.4103/0366-6999.172600
PMID:26712438
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4797549/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/72e4/4797549/d9bf80f42378/CMJ-129-88-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/72e4/4797549/70fb56900f41/CMJ-129-88-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/72e4/4797549/d9bf80f42378/CMJ-129-88-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/72e4/4797549/70fb56900f41/CMJ-129-88-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/72e4/4797549/d9bf80f42378/CMJ-129-88-g002.jpg

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Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family.I型胶原α1链突变导致一个中国家系中从轻度到围生期死亡的成骨不全症。
Chin Med J (Engl). 2016 Jan 5;129(1):88-91. doi: 10.4103/0366-6999.172600.
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[Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I].
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Curr Issues Mol Biol. 2024 Apr 29;46(5):4106-4118. doi: 10.3390/cimb46050252.
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Comparing Clinical and Genetic Characteristics of and Inherited Variants in a Large Chinese Cohort of Osteogenesis Imperfecta.比较中国一个大型成骨不全队列中临床与遗传性变异的特征。
Front Endocrinol (Lausanne). 2022 Jul 14;13:935905. doi: 10.3389/fendo.2022.935905. eCollection 2022.
3
Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.

本文引用的文献

1
Treatment of osteogenesis imperfecta in adults.成人成骨不全症的治疗。
Eur J Endocrinol. 2014 Aug;171(2):R79-90. doi: 10.1530/EJE-14-0017. Epub 2014 Apr 23.
2
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.韩国成骨不全患者I型胶原蛋白基因的突变谱
Hum Mutat. 2006 Jun;27(6):599. doi: 10.1002/humu.9423.
3
Dental manifestations of osteogenesis imperfecta and abnormalities of collagen I metabolism.成骨不全的牙齿表现及I型胶原代谢异常
日本成骨不全症患者的基因分析：96 名先证者的基因型和表型谱。
Mol Genet Genomic Med. 2021 Jun;9(6):e1675. doi: 10.1002/mgg3.1675. Epub 2021 May 3.
4
A novel mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities.一个患有成骨不全症且伴有表型变异的家族中的一种新型突变。
Hum Genome Var. 2017 Mar 16;4:17007. doi: 10.1038/hgv.2017.7. eCollection 2017.
J Craniofac Genet Dev Biol. 1998 Jan-Mar;18(1):30-7.
4
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.I型胶原蛋白α2链中的Gly238Ser替代导致III型成骨不全症。
Hum Genet. 1995 Feb;95(2):215-8. doi: 10.1007/BF00209405.
5
Genetic heterogeneity in osteogenesis imperfecta.成骨不全症中的遗传异质性。
J Med Genet. 1979 Apr;16(2):101-16. doi: 10.1136/jmg.16.2.101.