scholarly journals Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population

2002 ◽  
Vol 165 (2) ◽  
pp. 335-342 ◽  
Author(s):  
Wenxin Yu ◽  
Atsushi Nohara ◽  
Toshinori Higashikata ◽  
Hong Lu ◽  
Akihiro Inazu ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Familial Hypercholesterolemia ◽  
Japanese Population ◽  
Regional Difference ◽  
Receptor Gene ◽  
Molecular Genetic ◽  
Ldl Receptor ◽  
Gene Mutations ◽  
Molecular Genetic Analysis

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands

2000 ◽  
Vol 57 (2) ◽  
pp. 116-124 ◽  
Author(s):  
M Paola Lombardi ◽  
Egbert Jw Redeker ◽  
Joep C Defesche ◽  
Sylvia Wa Kamerling ◽  
Mieke D Trip ◽  
...  
Keyword(s):  
Genetic Testing ◽  
The Netherlands ◽  
Familial Hypercholesterolemia ◽  
Receptor Gene ◽  
Molecular Genetic ◽  
Ldl Receptor ◽  
Gene Mutations ◽  
Molecular Genetic Testing

Molecular Genetic Analysis of the Ryanodine Receptor Gene (RYR1) in Korean Malignant Hyperthermia Families

2010 ◽  
Vol 30 (6) ◽  
pp. 702-710 ◽  
Author(s):  
Ho Lee ◽  
Dong Chan Kim ◽  
Jae Hyeon Lee ◽  
Yong Gon Cho ◽  
Hye Soo Lee ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Malignant Hyperthermia ◽  
Ryanodine Receptor ◽  
Receptor Gene ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis

Recurrent and novel LDL-receptor gene mutations causing heterozygote familial hypercholesterolemia in La Habana

1994 ◽  
Vol 109 (1-2) ◽  
pp. 132
Author(s):  
E. Perreira ◽  
R. Ferrera ◽  
B. Hermelin ◽  
C. Bernard ◽  
V. Bertrand ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Receptor Gene ◽  
Ldl Receptor ◽  
Gene Mutations
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