The clinical features and gene mutation analysis in a pedigree of spinocerebellar ataxia type 7

2007 ◽  
Vol 29 (06) ◽  
pp. 688
Author(s):  
Xin-Zhen YIN
Keyword(s):  
Gene Mutation ◽  
Spinocerebellar Ataxia ◽  
Clinical Features ◽  
Mutation Analysis ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 7 ◽  
Gene Mutation Analysis

Clinical features and gene mutation analysis of patients with hypophosphatemic rickets

Bone ◽  
2010 ◽  
Vol 47 ◽  
pp. S377
Author(s):  
Wei-Bo Xia ◽  
Yue Sun ◽  
Xiao-Dong He ◽  
Yan Jiang ◽  
Ming Nie ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Clinical Features ◽  
Mutation Analysis ◽  
Hypophosphatemic Rickets ◽  
Gene Mutation Analysis

Origin of the Spinocerebellar Ataxia Type 7 Gene Mutation in Mexican Population

2013 ◽  
Vol 12 (6) ◽  
pp. 902-905 ◽  
Author(s):  
J. J. Magaña ◽  
R. Gómez ◽  
M. Maldonado-Rodríguez ◽  
L. Velázquez-Pérez ◽  
Y. S. Tapia-Guerrero ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Spinocerebellar Ataxia ◽  
Mexican Population ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 7

Clinical Features and Ryanodine Receptor Type 1 Gene Mutation Analysis in a Chinese Family With Central Core Disease

2012 ◽  
Vol 28 (3) ◽  
pp. 384-388 ◽  
Author(s):  
Xingzhi Chang ◽  
Yiwen Jin ◽  
Haijuan Zhao ◽  
Qionghui Huang ◽  
Jingmin Wang ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Ryanodine Receptor ◽  
Clinical Features ◽  
Mutation Analysis ◽  
Central Core ◽  
Central Core Disease ◽  
Receptor Type ◽  
Chinese Family ◽  
Gene Mutation Analysis

Genetic counselling and gene mutation analysis in familial adenomatous polyposis in Western Australia

1995 ◽  
Vol 162 (9) ◽  
pp. 464-467 ◽  
Author(s):  
Ian R Walpole ◽  
Jack Goldblatt ◽  
Deborah A Kool ◽  
Ted Edkins ◽  
Rhona Creegan ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Gene Mutation ◽  
Genetic Counselling ◽  
Mutation Analysis ◽  
Western Australia ◽  
Adenomatous Polyposis ◽  
Gene Mutation Analysis

scholarly journals Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5

2021 ◽  
Vol 8 (4) ◽  
pp. 956-963
Author(s):  
Romina Romaniello ◽  
Andrea Citterio ◽  
Elena Panzeri ◽  
Filippo Arrigoni ◽  
Marta De Rinaldis ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Spinocerebellar Ataxia ◽  
Early Onset ◽  
Spinocerebellar Ataxia Type ◽  
Intragenic Deletion
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