Faculty Opinions recommendation of Linkage analysis combined with whole exome sequencing identifies a novel prothrombin (F2) gene mutation in a Dutch Caucasian family with unexplained thrombosis.

2019 ◽  
Author(s):  
Toshiyuki Miyata
Keyword(s):  
Linkage Analysis ◽  
Exome Sequencing ◽  
Gene Mutation ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Caucasian Family

scholarly journals Linkage analysis combined with whole-exome sequencing identifies a novel prothrombin (F2) gene mutation in a Dutch Caucasian family with unexplained thrombosis

Haematologica ◽  
2019 ◽  
Vol 105 (7) ◽  
pp. e370-e372 ◽  
Author(s):  
René Mulder ◽  
Ton Lisman ◽  
Joost C.M. Meijers ◽  
James A. Huntington ◽  
André B. Mulder ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Exome Sequencing ◽  
Gene Mutation ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Caucasian Family

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

Neurogenetics ◽  
2019 ◽  
Vol 20 (3) ◽  
pp. 117-127 ◽  
Author(s):  
Shelisa Tey ◽  
Nortina Shahrizaila ◽  
Alexander P. Drew ◽  
Sarimah Samulong ◽  
Khean-Jin Goh ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Whole Exome ◽  
Autosomal Recessive Cmt

Gene mutation screening using whole exome sequencing in lipid storage myopathy

2015 ◽  
Vol 25 ◽  
pp. S204
Author(s):  
K. Takayama ◽  
S. Mitsuhashi ◽  
I. Nonaka ◽  
S. Noguchi ◽  
I. Nishino
Keyword(s):  
Exome Sequencing ◽  
Gene Mutation ◽  
Whole Exome Sequencing ◽  
Mutation Screening ◽  
Lipid Storage ◽  
Lipid Storage Myopathy ◽  
Whole Exome
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