frmd7

نتایج جستجو برای: frmd7

تعداد نتایج: 66 فیلتر نتایج به سال:

A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree.

Journal: :Genetics and molecular research : GMR 2013

C Y Cai H Zhu W Shi L Su O Shi C Q Cai C Ling W D Li

Ocular albinism is an X-linked inherited disease characterized by hypopigmentation of the iris and nystagmus. To identify a new disease-causing mutation of ocular albinism, we collected a Han Chinese pedigree with 7 male congenital nystagmus patients over 3 generations. Slit-lamp photography and optical coherence tomography were performed for the proband. Genomic DNA was extracted from a whole ...

متن کامل

Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene

Journal: :British Journal of Ophthalmology 2007

متن کامل

Expression of a novel splice variant of FRMD7 in developing human fetal brains that is upregulated upon the differentiation of NT2 cells

Journal: :Experimental and Therapeutic Medicine 2014

متن کامل

Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus

Journal: :Journal of Zhejiang University SCIENCE B 2013

متن کامل

Prolonged Pursuit by Optokinetic Drum Testing in Asymptomatic Female Carriers of Novel <emph type="ital">FRMD7</emph> Splice Mutation c.1050 +5 G>A

Journal: :Archives of Ophthalmology 2011

متن کامل

Erratum to: Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus

Journal: :Journal of Zhejiang University SCIENCE B 2013

متن کامل

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید

A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree.

Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene

Expression of a novel splice variant of FRMD7 in developing human fetal brains that is upregulated upon the differentiation of NT2 cells

Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus

Prolonged Pursuit by Optokinetic Drum Testing in Asymptomatic Female Carriers of Novel <emph type="ital">FRMD7</emph> Splice Mutation c.1050 +5 G&gt;A

Erratum to: Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus

Prolonged Pursuit by Optokinetic Drum Testing in Asymptomatic Female Carriers of Novel <emph type="ital">FRMD7</emph> Splice Mutation c.1050 +5 G>A