Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.

Nicholls AC; Valler D; Wallis S; Pope FM

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Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.

机译：COL1A2基因剪接位点突变的纯合性产生无功能的proα2（I）链和EDS / OI临床表型。

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来源
《Journal of Medical Genetics》 |2001年第2期|共5页
作者
Nicholls AC; Valler D; Wallis S; Pope FM;
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正文语种 eng
中图分类基础医学;
关键词
Collagen; Ehlers-Danlos Syndrome; Mutation; Osteogenesis Imperfecta; Procollagen; 胶原; Ehlers-Danlos综合征; 突变; 成骨不全; 溶胶原;

机译：Collagen;Ehlers-Danlos Syndrome;Mutation;Osteogenesis Imperfecta;Procollagen;胶原;Ehlers-Danlos综合征;突变;成骨不全;溶胶原;

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1. Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype. [J] . Nicholls AC, Valler D, Wallis S, Journal of Medical Genetics . 2001,第2期

机译：COL1A2基因剪接位点突变的纯合性产生无功能的proα2（I）链和EDS / OI临床表型。
2. Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand. Initiation codon mutation of α2-globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G). [J] . Vip Viprakasit, Supachai Ekwattanakit, Nipon Chalaow, Acta Haematologica . 2014,第2期

机译：泰国四种罕见的α珠蛋白变体的临床表现和分子鉴定。 α2-珠蛋白基因的起始密码子突变（HBA2：c.1delA），α1-珠蛋白基因的供体剪接位点突变（IVSI-1，HBA1：c.95 + 1G> A），血红蛋白Queens Park / Chao Pra Ya（HBA1 ：c.98T> A）和血红蛋白Westmead（HBA2：c.369C> G）。
3. Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta ( OI ) types I or III [J] . Aleksandra Augusciak-Duma, Joanna Witecka, Aleksander L. Sieron, Acta biochimica Polonica . 2018,第1期

机译：I型或III型成骨不全症（OI）相关的COL1A1和COL1A2基因突变
4. Tauopathy with intronic 10+14 splice site tau gene mutation mimicking Perry syndrome [C] . Omoto Masatoshi, Suzuki Satoshi, Ikeuchi Takeshi, International Congress of Neuropathology . 2010

机译：具有内含性10 + 14剪接部位Tau基因突变模拟佩里综合征的胁迫
5. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

机译：人类遗传疾病的多种机制：COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
6. Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional proα2(I) chain and an EDS/OI clinical phenotype [O] . A NICHOLLS, D VALLER, S WALLIS, 2001

机译：纯合性的COL1A2基因的剪接位点突变产生一个无功能的proα2（I）链和EDS / OI临床表型。
7. Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional proα2(I) chain and an EDS/OI clinical phenotype [O] . NICHOLLS, A, VALLER, D, WALLIS, S, 2001

机译：纯合性的COL1A2基因的剪接位点突变产生无功能的proα2（I）链和EDS / OI临床表型。

Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.

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