ARHGAP4 mutated in a Chinese intellectually challenged family

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ARHGAP4 mutated in a Chinese intellectually challenged family

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作者：Fuhua Liu^a ; ^b ; ¹ ; Hui Guo^c ; ¹ ; Minglin Ou^a ; Xianliang Hou^a ; Guoping Sun^d ; Weiwei Gong^a ; Huanyun Jing^a ; Qiupei Tan^a ; Wen Xue^a ; Yong Dai^c ; ^{daiyong2222@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Weiguo Sui^a ; ^{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.

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