A novel point mutation at donor splice-site in intron 18 of ATP2A2 gene resulting in the insertion of 27 nucleotides into the mature mRNA in a Chinese patient with severe Darier's disease.

Zhang GL; Li M; Du XF; Shi HJ; Shao MH; Mu HJ; Gu Y; Yang SD

首页> 外文期刊>Journal of dermatological science >A novel point mutation at donor splice-site in intron 18 of ATP2A2 gene resulting in the insertion of 27 nucleotides into the mature mRNA in a Chinese patient with severe Darier's disease.

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A novel point mutation at donor splice-site in intron 18 of ATP2A2 gene resulting in the insertion of 27 nucleotides into the mature mRNA in a Chinese patient with severe Darier's disease.

机译：ATP2A2基因内含子18的供体剪接位点的新点突变导致一名患有严重Darier病的中国患者的成熟mRNA中插入了27个核苷酸。

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Darier's disease (DD, OMIM 124200) is a rare autosomal dominant hereditary skin disorder characterized by abnormal keratinization and acantholysis. The causes of DD are defects in the ATP2A2 gene on chromosome 12q23-24.1, which encodes the sarco/endoplasmic reticulum Ca2+ ATPase isoform 2 (SERCA2) [1 ]. To date, at least 180 ATP2A2 mutations have been reported in DD patients, and it seems that individual affected families have their unique mutations [1-10]. Here we report a novel splice-site mutation in a sporadic patient with severe DD.

机译：达里尔氏病（DD，OMIM 124200）是一种罕见的常染色体显性遗传性皮肤病，其特征在于异常的角质化和棘层松解。 DD的原因是12q23-24.1号染色体上ATP2A2基因的缺陷，该基因编码肌浆网/内质网Ca2 + ATPase同工型2（SERCA2）[1]。迄今为止，DD患者中至少报告了180个ATP2A2突变，而且似乎每个受影响的家庭都有其独特的突变[1-10]。在这里，我们报告了重度DD的散发患者中的新型剪接位点突变。

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《Journal of dermatological science》 |2011年第1期|共4页
作者
Zhang GL; Li M; Du XF; Shi HJ; Shao MH; Mu HJ; Gu Y; Yang SD;
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中图分类皮肤病学与性病学;
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1. A novel point mutation at donor splice-site in intron 18 of ATP2A2 gene resulting in the insertion of 27 nucleotides into the mature mRNA in a Chinese patient with severe Darier's disease. [J] . Zhang GL, Li M, Du XF, Journal of dermatological science . 2011,第1期

机译：ATP2A2基因内含子18的供体剪接位点的新点突变导致一名患有严重Darier病的中国患者的成熟mRNA中插入了27个核苷酸。
2. A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome. [J] . Okita H, Ikeda Y, Mitsuhashi Y, Archives of dermatological research. . 2010,第5期

机译：在血管类型的Ehlers-Danlos综合征的情况下，III型胶原基因的内含子42中供体剪接位点的新的点突变导致成熟的mRNA包含30个核苷酸。
3. A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers–Danlos syndrome [J] . Hiroshi Okita, Yasunori Ikeda, Yoshihiko Mitsuhashi, Archives of Dermatological Research . 2010,第5期

机译：在血管类型的Ehlers-Danlos综合征病例中，III型胶原基因的42号内含子中供体剪接位点的新点突变导致成熟的mRNA包含30个核苷酸
4. Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation. [O] . U Schwarze, B J Starman, P H Byers 1999

机译：通过内含子8剪接供体位点突变以成骨不全的形式重新定义I型胶原的COL1A1基因中的外显子7：内含子剪接顺序对剪接位点突变结果的影响。
5. Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation. [O] . Schwarze, U, Starman, B J, Byers, P H 1999

机译：通过内含子8剪接供体位点突变以成骨不全的形式重新定义I型胶原的COL1A1基因中的外显子7：内含子剪接顺序对剪接位点突变结果的影响。

A novel point mutation at donor splice-site in intron 18 of ATP2A2 gene resulting in the insertion of 27 nucleotides into the mature mRNA in a Chinese patient with severe Darier's disease.

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