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 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

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

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

A novel mutation in the kinase domain of KIT in an Indian family with a mild piebaldism phenotype

2010 ◽  
Vol 59 (3) ◽  
pp. 206-209 ◽  
Author(s):  
Kai-Ling Chong ◽  
John E.A. Common ◽  
E. Birgitte Lane ◽  
Boon-Kee Goh
Keyword(s):  
Novel Mutation ◽  
Kinase Domain ◽  
Indian Family

Congenital mirror movements in a family with a novel mutation in the DCC gene

2011 ◽  
Vol 42 (S 01) ◽  
Author(s):  
GC Korenke ◽  
M Wagner ◽  
A Maak ◽  
G Rosenberger ◽  
K Kutsche
Keyword(s):  
Novel Mutation ◽  
Mirror Movements ◽  
Dcc Gene

Danon Disease: Clinical Presentation and Diagnostic Workup in a Case of a Male Patient with a Novel Mutation in the LAMP2 Gene

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
A. Dieckmann ◽  
F. Majer ◽  
H. Hulkova ◽  
M. Farr ◽  
T. Kalina ◽  
...  
Keyword(s):  
Male Patient ◽  
Clinical Presentation ◽  
Novel Mutation ◽  
Diagnostic Workup ◽  
Danon Disease ◽  
Lamp2 Gene
Sign in / Sign up

Export Citation Format

Share Document