Novel SOST gene mutation in a sclerosteosis patient and her parents

Bone ◽  
2013 ◽  
Vol 52 (2) ◽  
pp. 707-710 ◽  
Author(s):  
Sanjay Kumar Bhadada ◽  
Ashu Rastogi ◽  
Ellen Steenackers ◽  
Eveline Boudin ◽  
Ashutosh Arya ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Sost Gene

A Known SOST Gene Mutation Causes Sclerosteosis in a Familial and an Isolated Case from Brazilian Origin

2008 ◽  
Vol 12 (4) ◽  
pp. 475-479 ◽  
Author(s):  
Chong Ae Kim ◽  
Rachel Honjo ◽  
Débora Bertola ◽  
Lílian Albano ◽  
Luiz Oliveira ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Sost Gene

Novel SOST gene mutation in a sclerosteosis patient from Morocco: A case report

2014 ◽  
Vol 57 (4) ◽  
pp. 133-137 ◽  
Author(s):  
Mohamed Reda Belkhribchia ◽  
Corinne Collet ◽  
Jean-Louis Laplanche ◽  
Redouane Hassani
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Sost 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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