Seven novel mutations of theADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH)
| العنوان: | Seven novel mutations of theADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH) |
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| المؤلفون: | Kai-Yue Zhang, Hong-Duo Chen, Lin Jin, Chundi He, Jianjun Chen, Min Gao, Yong Cui, Ping-Ping He, Shi-Jie Xu, Ming Li, Wei Huang, Sen Yang, Xuejun Zhang, Cheng-Rang Li, Kai-Lin Yan |
| المصدر: | Human Mutation. 23:629-630 |
| بيانات النشر: | Hindawi Limited, 2004. |
| سنة النشر: | 2004 |
| مصطلحات موضوعية: | Male, Genotype, Adenosine Deaminase, DNA Mutational Analysis, Biology, medicine.disease_cause, Genotype-phenotype distinction, Adenosine deaminase, Asian People, Genetics, medicine, Humans, Gene, Genetics (clinical), Mutation, Genodermatosis, RNA-Binding Proteins, medicine.disease, Phenotype, Dyschromatosis symmetrica hereditaria, Face, ADAR, biology.protein, Female, Pigmentation Disorders |
| الوصف: | Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules of on the extremities and caused by the mutations in the ADAR gene(also called DSRAD) encoding for RNA-specific adenosine deaminase. Here we reported clinical and molecular findings of 6 Chinese multi-generation families and 2 sporadic patients with DSH. We found that the same mutation could lead to different phenotypes even in the same family and we did not establish a clear correlation between genotypes and phenotypes. Seven novel heterozygous mutations of ADAR were identified, which were c.2433_2434delAG (p.T811fs), c.2197G>T (p.E733X), c.3286C>T (p.R1096X), c.2897G>T (p.C966F), c.2797C>T (p.Q933X), c.2375delT (p.L792fs) and c.3203-2A>G respectively. Our data add new variants to the repertoire of ADAR mutations in DSH. © 2004 Wiley-Liss, Inc. |
| تدمد: | 1098-1004 1059-7794 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0b550c2bf01b3b2c7679f096c7dcff5Test https://doi.org/10.1002/humu.9246Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....a0b550c2bf01b3b2c7679f096c7dcff5 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10981004 10597794 |
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