http://www.neobioscience.com/prod_view.aspx?TypeId=409&Id=1338985&FId=t3:409:3 WebDec 15, 2011 · Linkage in the family was established to the gene C2orf37, mapped on chromosome 2q22.3–2q35. DNA sequence analysis revealed a novel splice site mutation involving a homozygous G → A transition in the splice donor site of intron 3 (c.321 + 1 G > A) of C2orf37. This study presents a first report of Woodhouse–Sakati syndrome …
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CASE REPORT Woodhouse-Sakati Syndrome: Report of the
Web本发明提供了一种具有降低的脱靶效应的基因编辑系统,包括(a)包含编码核酸酶的核酸序列的载体,其中编码核酸酶的核酸在其序列内包含调控核酸序列,该调控核酸序列具有定义第一内含子和第二内含子的第一组剪接元件和第二组剪接元件,其中第一内含子和第二内含子在编码包含符合读框的终止 ... WebNov 20, 2008 · Our data revealed a common founder mutation in C2orf37 as the cause of WSS in all the Saudi families we examined, including the ones originally described by Woodhouse and Sakati. Subsequent … WebDec 15, 2011 · Woodhouse–Sakati Syndrome (WSS) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, intellectual disability, deafness, diabetes mellitus and progressive extrapyramidal defects.Mutations in the gene C2orf37 are the cause of Woodhouse–Sakati syndrome. In the present study, a four … google mini commands list