Characterization of two novel FANCG mutations in Indian Fanconi anemia patients

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• 作者：Avani Solanki^a ; C. Kumar Selvaa^b ; Frenny Sheth^c ; Nita Radhakrishnan^d ; Manas Kalra^e ; Babu Rao Vundinti^a ; ^{vbaburao@hotmail.com}
• 关键词：Bone marrow failure ; Chromosomal breakage ; FANCD2 monoubiquitination ; FA-G complementation group ; Fanconi anemia ; Direct sequencing ; FANCG
• 刊名：Leukemia Research
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：53
• 期：Complete
• 页码：50-56
• 全文大小：5281 K
• 卷排序：53

文摘

FANCG gene mutations are not reported systematically from Indian FA patients. C.1143 + 5 G > C mutation of intron9 causes exon9 skipping and can hamper TPR3 motif. C.883dupG mutation causes truncation before TPR3 motif and remainder C-terminus. Del-ins mutation c.1471_1473delAAAinsG hampers TPR6 and the remainder C-terminus.