A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities
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- 作者：Soudeh Ghafouri-Farda ; Majid Fardaeib ; mfardaei@sums.ac.ir" class="auth_mail" title="E-mail the corresponding author ; Mohammad Miryounesic ; miryounesi@sbmu.ac.ir" class="auth_mail" title="E-mail the corresponding author
- 关键词：Xeroderma pigmentosumm ; XPA ; Mutation ; Neurodegeneration
- 刊名：Gene
- 出版年：2016
- 出版时间：15 January 2016
- 年：2016
- 卷：576
- 期：1
- 页码：379-380
- 全文大小：328 K
文摘
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We performed mutational analysis of Xeroderma pigmentosum associated genes in an 8-year female patient.
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We found a novel homozygous frameshift mutation, c.349_353 delCTTAT (p.Leu117GlufsX4) in XPA gene.
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This mutation has been associated with severe neurological abnormalities.