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Report of a Novel OCA2 Gene Mutation and an Investigation of Two OCA2 Variants on Melanoma Predisposition in a Familial Melanoma Pedigree

机译：新型OCa2基因突变的报告和两个OCa2变体对黑色素瘤易感性的家族谱系黑色素瘤的研究

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BackgroundOculocutaneous albinism type 2 (OCA2) is caused by mutations of the OCA2 gene. Individuals affected by OCA2 as well as other types of albinism are at a significantly increased risk for sun-induced skin-cancers, including malignant melanoma (MM).

机译：背景技术2型眼皮肤白化病（OCA2）是由OCA2基因的突变引起的。受OCA2以及其他类型的白化病影响的个体患上太阳诱发的皮肤癌（包括恶性黑色素瘤（MM））的风险显着增加。

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期刊名称 other
作者
Jason E. Hawkes; Pamela B. Cassidy; Prashiela Manga; Raymond E. Boissy; David Goldgar; Lisa Cannon-Albright; Scott R. Florell; Sancy A. Leachman;
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年(卷),期 -1(69),1
年度 -1
页码 30–37
总页数 19
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专利

1. Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree [J] . HawkesJ.E., CassidyP.B., MangaP., Journal of dermatological science . 2013,第1期

机译：家族性黑色素瘤谱系中新型OCA2基因突变的报道和OCA2变体对黑色素瘤风险的研究
2. Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma [J] . Vaishnavi Nathan, Peter A. Johansson, Jane M. Palmer, Pigment cell & melanoma research . 2019,第6期

机译：血管皮膜炎基因的种系变体和家族性皮肤瘤的易感性
3. Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees. [J] . Chaudru V, Laud K, Avril MF, Cancer epidemiology, biomarkers and prevention: A publication of the American Association for Cancer Research . 2005,第10期

机译：Melanocortin-1受体（MC1R）基因变体和增生异常痣可改变法国黑素瘤易感家系中CDKN2A突变的渗透性。
4. Computational Prediction of Driver Missense Mutations in Melanoma [C] . Haiyang Sun, Zhenyu Yue, Le Zhao, International conference on intelligent computing . 2018

机译：黑色素瘤驾驶员错义突变的计算预测
5. NRAS and BRAF mutations in primary cutaneous melanoma: A comparison of mutation rates between radial and vertical growth phases in individual tumors. [D] . Greene, Victoria R. 2007

机译：原发性皮肤黑素瘤中的NRAS和BRAF突变：单个肿瘤在径向和垂直生长期之间的突变率比较。
6. Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants [O] . Jenna E. Rayner, David L. Duffy, Darren J. Smit, 2020

机译：Amelisotic / hypomelanotic黑色素瘤中的种系和体晶符号变异：Tyr和OCA2变体的载体增加
7. Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree [O] . Jason E. Hawkes, Pamela B. Cassidy, Prashiela Manga, 2013

机译：新型OCA2基因突变的报告及oca2变异对家族性黑素瘤血糖瘤的风险

Report of a Novel OCA2 Gene Mutation and an Investigation of Two OCA2 Variants on Melanoma Predisposition in a Familial Melanoma Pedigree

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