Two novel splice site mutations of the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria.

Wang XP; Liu Y; Wang JM; Xiao SX

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Two novel splice site mutations of the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria.

机译：中国对称失色症家族中ADAR1基因的两个新的剪接位点突变。

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Dyschromatosis symmetrica hereditaria (DSH, Online Mendelian Inheritance in Man 127400) was first reported by Toyama in 1910 and formally named as a clinical entity in 1929.1 It is a pigmentary genoderma-tosis characterized by a mixture of hypo- and hyper-pigmented macules distributed on the dorsa aspects of the extremities. Many patients with DSH also have small freckle-like pigmented macules on their faces. The lesions usually appear in infancy or early childhood, commonly stop spreading before adolescence, and last for life.

机译：对称性色差遗传病（DSH，在线孟德尔遗传学，编号127400）于1910年由富山首次报道，并于1929.1年正式命名为临床实体。这是一种色素性皮肤病，其特征是色素和色素沉着的混合斑四肢的背侧。许多DSH患者的脸上也有雀斑状的色素斑。病变通常出现在婴儿期或儿童早期，通常在青春期之前停止扩散，并持续一生。

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《The Journal of dermatology》 |2010年第12期|共2页
作者
Wang XP; Liu Y; Wang JM; Xiao SX;
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正文语种 eng
中图分类皮肤病学与性病学;
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1. Two novel splice site mutations of the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria. [J] . Wang XP, Liu Y, Wang JM, The Journal of dermatology . 2010,第12期

机译：中国对称失色症家族中ADAR1基因的两个新的剪接位点突变。
2. Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria. [J] . Liu H, Fu XA, Yu YX, Clinical and experimental dermatology . 2011,第7期

机译：鉴定两个对称性遗传性色异常的中国家庭中ADAR1基因的两个新的剪接突变。
3. A novel complex insertion-deletion mutation in ADAR1 gene in a Chinese family with dyschromatosis symmetrica hereditaria. [J] . Li M, Jin C, Yang L, Journal of the European Academy of Dermatology and Venereology: JEADV . 2011,第6期

机译：中国对称失色症家族中ADAR1基因的新型复杂插入-缺失突变。
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. Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria [O] . Zhuang-li Tang, Shuang Wang, Chen Tu, -1

机译：中国对称性色盲症患者的ADAR1基因的八个新突变。
7. A novel insertion mutation in the ADAR1 gene of a Chinese family with dyschromatosis symmetrica hereditaria [O] . C.Y. Zhu, K.J. Zhu, Y. Zhou, 2013

机译：一种新型嗜毒瘤病Symmetrrica腓虫的中国家庭ADAR1基因的一种新型插入突变

Two novel splice site mutations of the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria.

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