scholarly journals Familial Nephropathy and Multiple Exostoses With Exostosin-1 (EXT1) Gene Mutation

2008 ◽  
Vol 19 (3) ◽  
pp. 450-453 ◽  
Author(s):  
Ian S. D. Roberts ◽  
Jonathan M. Gleadle
Keyword(s):  
Gene Mutation ◽  
Multiple Exostoses ◽  
Familial Nephropathy ◽  
Ext1 Gene

A novel EXT1 gene mutation causing hereditary multiple exostoses in a Chinese pedigree

Pathology ◽  
2010 ◽  
Vol 42 (1) ◽  
pp. 91-93
Author(s):  
Yuchan Li ◽  
Jian Wang ◽  
Huaiyuan Li ◽  
Jing Wang ◽  
Xuefeng Wang ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Hereditary Multiple Exostoses ◽  
Multiple Exostoses ◽  
Ext1 Gene

scholarly journals Novel deletion and 2397 G>T mutations of the EXT1 gene identified in two Chinese pedigrees with hereditary multiple exostoses using exon sequencing

2020 ◽  
Vol 9 (5) ◽  
pp. 619-628
Author(s):  
Yang Shen ◽  
Lei Zhang ◽  
Bosong Chen ◽  
Liangchao Dong ◽  
Yicheng Wang ◽  
...  
Keyword(s):  
Hereditary Multiple Exostoses ◽  
Multiple Exostoses ◽  
Ext1 Gene

Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene

2008 ◽  
Vol 36 (4) ◽  
pp. 661-667 ◽  
Author(s):  
Sana Sfar ◽  
Abderrazak Abid ◽  
Wijden Mahfoudh ◽  
Houyem Ouragini ◽  
Farah Ouechtati ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Hereditary Multiple Exostoses ◽  
Frame Shift ◽  
Frame Shift Mutation ◽  
Multiple Exostoses ◽  
Ext1 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
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