Novel Mutation in an Indian Patient with Transcobalamin II Deficiency

2015 ◽  
Vol 82 (11) ◽  
pp. 1073-1074 ◽  
Author(s):  
Sandip Bartakke ◽  
Avinash Saindane ◽  
Vardhaman Udgirkar ◽  
S. Shrividya ◽  
Gandham SriLakshmi Bhavani ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Indian Patient ◽  
Transcobalamin Ii

Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene

2008 ◽  
Vol 31 (S2) ◽  
pp. 317-322 ◽  
Author(s):  
H. U. Shirwalkar ◽  
Z. M. Patel ◽  
J. Magre ◽  
P. Hilbert ◽  
L. Van Maldergem ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Indian Patient ◽  
Congenital Generalized Lipodystrophy

A novel mutation in erythropoietin receptor gene (c.1308_1309insG) in an Indian patient with erythrocytosis

2019 ◽  
Vol 103 (4) ◽  
pp. 449-450
Author(s):  
Ankur Jain ◽  
Pooja Prasad ◽  
Sumita Chaudhry ◽  
DK Gupta ◽  
Sumita Saluja
Keyword(s):  
Novel Mutation ◽  
Receptor Gene ◽  
Erythropoietin Receptor ◽  
Indian Patient

A novel mutation of the leptin gene in an Indian patient

2013 ◽  
Vol 86 (4) ◽  
pp. 391-393 ◽  
Author(s):  
S. Thakur ◽  
A. Kumar ◽  
S. Dubey ◽  
R. Saxena ◽  
A.N.C. Peters ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Indian Patient

A novel mutation at ANTXR1 in an Indian patient with growth retardation–alopecia–pseudoanodontia–optic atrophy syndrome

2017 ◽  
Vol 124 (5) ◽  
pp. e261-e265 ◽  
Author(s):  
Esita Chattopadhyay ◽  
Sandip Ghose ◽  
Anindita Ray ◽  
Nishat Anjum ◽  
Anjana Mazumdar ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Optic Atrophy ◽  
Novel Mutation ◽  
Indian Patient

CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene

2019 ◽  
Vol 36 (3) ◽  
pp. 372-376 ◽  
Author(s):  
Shital Poojary ◽  
Kapisha S. Shah ◽  
Krishna B. Bhalala ◽  
Anaita Udwadia Hegde
Keyword(s):  
Novel Mutation ◽  
Indian Patient
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