scholarly journals An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation

2015 ◽  
Vol 02 (02) ◽  
pp. 109-112
Author(s):  
Parag Dekate ◽  
Sheetal Sharda ◽  
Ashim Das ◽  
Savita Attri ◽  
Devi Dayal
Keyword(s):  
Gene Mutation ◽  
Indian Girl ◽  
Slc2a2 Gene

Hypophosphatemic rickets caused by a novel PHEX gene mutation in an Indian girl

2014 ◽  
Vol 27 (7-8) ◽  
Author(s):  
Devi Dayal ◽  
Sheetal Sharda ◽  
Savita Verma Attri ◽  
Rakesh Kumar
Keyword(s):  
Gene Mutation ◽  
Hypophosphatemic Rickets ◽  
Indian Girl ◽  
Phex Gene

Abstract #703: An Adult Patient with Severe Hypocalciuric Hypercalcemia with Negative Casr Gene Mutation

2015 ◽  
Vol 21 ◽  
pp. 124-125
Author(s):  
Grace Kim ◽  
Michael Marchese ◽  
Hassan Shawa ◽  
Matthew Leinung ◽  
Sara Clark
Keyword(s):  
Adult Patient ◽  
Gene Mutation ◽  
Casr Gene

SCREENING OF FSH RECEPTOR GENE MUTATION (C566T) IN AZOOSPERMIC MEN IN JAPAN

2006 ◽  
Vol 52 (1) ◽  
pp. 15-19 ◽  
Author(s):  
T. Ishikawa ◽  
M. Fujisawa ◽  
J. Tapanainen
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
Fsh Receptor ◽  
Fsh Receptor Gene

A frequent gene mutation associated with autosomal dominant Parkinson's disease

The Lancet ◽  
2005 ◽  
Vol 365 (9457) ◽  
pp. 412-415 ◽  
Author(s):  
A DIFONZO ◽  
C ROHE ◽  
J FERREIRA ◽  
H CHIEN ◽  
L VACCA ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Gene Mutation ◽  
Autosomal Dominant
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