A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family

2015 ◽  
Vol 597 ◽  
pp. 170-175 ◽  
Author(s):  
Shashank Gupta ◽  
Ekta Pathak ◽  
Vidya Nair Chaudhry ◽  
Prashaant Chaudhry ◽  
Rajeev Mishra ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Congenital Nystagmus ◽  
Indian Family

Lesch-Nyhan Syndrome in an Indian Family with Novel Mutation in the HPRT1 Gene

2011 ◽  
Vol 79 (11) ◽  
pp. 1520-1522 ◽  
Author(s):  
Suvasini Sharma ◽  
Rosa Torres Jiménez ◽  
Satinder Aneja ◽  
Marta G. Garcia ◽  
Gulshan R. Sethi
Keyword(s):  
Novel Mutation ◽  
Indian Family

scholarly journals 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

2013 ◽  
Vol 14 (9) ◽  
pp. 866-866
Author(s):  
Feng-wei Song ◽  
Bin-bin Chen ◽  
Zhao-hui Sun ◽  
Li-ping Wu ◽  
Su-juan Zhao ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Congenital Nystagmus

scholarly journals 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

2013 ◽  
Vol 14 (6) ◽  
pp. 479-486 ◽  
Author(s):  
Feng-wei Song ◽  
Bin-bin Chen ◽  
Zhao-hui Sun ◽  
Li-ping Wu ◽  
Su-juan Zhao ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Congenital Nystagmus

scholarly journals A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family

2018 ◽  
Vol 15 ◽  
pp. 124-126
Author(s):  
Jyotsna Singh ◽  
P.K. Muhammad ◽  
Sweta Jain ◽  
Aradhna Mathur ◽  
Shaista Parveen ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Indian Family

Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family

2006 ◽  
Vol 51 (9) ◽  
pp. 811-814 ◽  
Author(s):  
Akela Radha Rama Devi ◽  
Munimanda Gopikrishna ◽  
Raman Ratheesh ◽  
Gorinabele Savithri ◽  
Gowrishankar Swarnalata ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Indian Family

A novel mutation in the DNA-binding domain ofMAF at 16q23.1 associated with autosomal dominant “cerulean cataract” in an Indian family

2006 ◽  
Vol 140A (6) ◽  
pp. 558-566 ◽  
Author(s):  
Vanita Vanita ◽  
Daljit Singh ◽  
Peter N. Robinson ◽  
Karl Sperling ◽  
Jai Rup Singh
Keyword(s):  
Dna Binding ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Binding Domain ◽  
Dna Binding Domain ◽  
Indian Family

Primaquine-induced severe methemoglobinemia developed during treatment of Plasmodium vivax malarial infection in an Indian family associated with a novel mutation (p.Agr57Trp) in the CYB5R3 gene

2014 ◽  
Vol 437 ◽  
pp. 103-105 ◽  
Author(s):  
Prabhakar Kedar ◽  
Prashant Warang ◽  
Subhaprakash Sanyal ◽  
Rati Devendra ◽  
Kanjaksha Ghosh ◽  
...  
Keyword(s):  
Plasmodium Vivax ◽  
Novel Mutation ◽  
Indian Family ◽  
Malarial Infection

A novel mutation in MERTK for rod-cone dystrophy in a North Indian family

2019 ◽  
Vol 54 (1) ◽  
pp. 40-50 ◽  
Author(s):  
Sofia Bhatia ◽  
Navdeep Kaur ◽  
Indu R. Singh ◽  
Vanita Vanita
Keyword(s):  
Novel Mutation ◽  
Cone Dystrophy ◽  
Indian Family

scholarly journals Identifcation of a Novel Mutation p.I240T in the FRMD7 gene in a Family with Congenital Nystagmus

2013 ◽  
Vol 3 (1) ◽  
Author(s):  
Yihua Zhu ◽  
Jianfu Zhuang ◽  
Xianglian Ge ◽  
Xiao Zhang ◽  
Zheng Wang ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Congenital Nystagmus
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