scholarly journals Compound Heterozygous Mutations in the γ Subunit Gene of ENaC (1627delG and 1570-1G→A) in One Sporadic Japanese Patient with a Systemic Form of Pseudohypoaldosteronism Type 1

2001 ◽  
Vol 86 (1) ◽  
pp. 9-12 ◽  
Author(s):  
Masanori Adachi ◽  
Katsuhiko Tachibana ◽  
Yumi Asakura ◽  
Syuji Abe ◽  
Jun Nakae ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Compound Heterozygous ◽  
Subunit Gene ◽  
Γ Subunit ◽  
Compound Heterozygous Mutations ◽  
Systemic Form ◽  
Pseudohypoaldosteronism Type

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

scholarly journals Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature

2021 ◽  
Vol 9 (3) ◽  
pp. 623-631
Author(s):  
Lan-Xiao Cao ◽  
Ying Liu ◽  
Zhao-Jun Song ◽  
Bao-Rong Zhang ◽  
Wen-Ying Long ◽  
...  
Keyword(s):  
Case Report ◽  
Compound Heterozygous ◽  
Review Of Literature ◽  
Compound Heterozygous Mutations

scholarly journals A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1

2016 ◽  
Vol 25 (3) ◽  
pp. 111-114 ◽  
Author(s):  
Toshiki Tsunogai ◽  
Ichiro Miyata ◽  
Saori Kotake ◽  
Ryuki Matsuura ◽  
Ken Takagi ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Pseudohypoaldosteronism Type

Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky–Pudlak syndrome type 2

2019 ◽  
Vol 47 (2) ◽  
pp. 185-189 ◽  
Author(s):  
Takuro Nishikawa ◽  
Ken Okamura ◽  
Mizuki Moriyama ◽  
Kenji Watanabe ◽  
Atsuko Ibusuki ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Compound Heterozygous ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Compound Heterozygous Mutations

Compound Heterozygous Mutations in 2 Siblings with Hermansky-Pudlak Syndrome Type 1 (HPS1)

2010 ◽  
Vol 222 (03) ◽  
pp. 168-174 ◽  
Author(s):  
K. Sandrock ◽  
I. Bartsch ◽  
N. Rombach ◽  
K. Schmidt ◽  
L. Nakamura ◽  
...  
Keyword(s):  
Compound Heterozygous ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Compound Heterozygous Mutations
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