Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII

2017 ◽  
Vol 464 ◽  
pp. 170-175 ◽  
Author(s):  
Yanru Huang ◽  
Libin Mei ◽  
Weigang Lv ◽  
Haoxian Li ◽  
Rui Zhang ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Exome Sequencing ◽  
Compound Heterozygous ◽  
Osteogenesis Imperfecta Type ◽  
Type Viii ◽  
Targeted Exome Sequencing ◽  
Compound Heterozygous Mutations

Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing

2017 ◽  
Vol 471 ◽  
pp. 191-195 ◽  
Author(s):  
Aram Yang ◽  
Sung Yoon Cho ◽  
Ja-Hyun Jang ◽  
Jinsup Kim ◽  
Sook Za Kim ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Compound Heterozygous ◽  
Targeted Exome Sequencing ◽  
Compound Heterozygous Mutations

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica

2017 ◽  
Vol 60 (12) ◽  
pp. 635-638 ◽  
Author(s):  
Ryojun Takeda ◽  
Masaki Takagi ◽  
Hiroyuki Shinohara ◽  
Hiroshi Futagawa ◽  
Satoshi Narumi ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Japanese Patient ◽  
Compound Heterozygous ◽  
Whole Exome ◽  
Compound Heterozygous Mutations
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