ARHGAP4 mutated in a Chinese intellectually challenged family
详细信息 查看全文
- 作者：Fuhua Liua ; b ; 1 ; Hui Guoc ; 1 ; Minglin Oua ; Xianliang Houa ; Guoping Sund ; Weiwei Gonga ; Huanyun Jinga ; Qiupei Tana ; Wen Xuea ; Yong Daic ; daiyong2222@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Weiguo Suia ; suiwg@163.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：XLMR ; X-linked mental retardation ; EEG ; Electroencephalogram ; MRI ; Magnetic resonance imaging ; PHA ; Phytohemagglutinin ; LM-PCR ; Ligation-mediated polymerase chain reaction ; SNPs ; Single nucleotide polymorphisms ; InDels ; Insertions or deletions ; BWA ; Burrows&ndash ; Wheeler alignment tool ; SIFT ; Sorting intolerant from tolerant ; FISH ; Fluorescence in situ hybridization ; IQ ; Intelligence quotient ; NDI ; Nephrogenic diabetes insipidus
- 刊名：Gene
- 出版年：2016
- 出版时间：10 March 2016
- 年：2016
- 卷：578
- 期：2
- 页码：205-209
- 全文大小：561 K
文摘
- •
The family we watch investigated is a Chinese family come from clinical. It may be useful in future diagnosis research.
- •
We used whole-exome sequencing to screen variants.
- •
ARHGAP4 has been reported related to the intellectual development, while we have identified the mutations of ARHGAP4 in the family.