scholarly journals Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome

2002 ◽  
Vol 47 (5) ◽  
pp. 229-231 ◽  
Author(s):  
O. Sakamoto ◽  
T. Kitoh ◽  
T. Ohura ◽  
N. Ohya ◽  
K. Iinuma
Keyword(s):  
Missense Mutation ◽  
Japanese Patient ◽  
Barth Syndrome

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome

2018 ◽  
Vol 176 (12) ◽  
pp. 2803-2807 ◽  
Author(s):  
Shino Shimada ◽  
Kyoko Hirasawa ◽  
Akiko Takeshita ◽  
Hidetsugu Nakatsukasa ◽  
Keiko Yamamoto-Shimojima ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Japanese Patient ◽  
Compound Heterozygous ◽  
Exon 1

Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII

1996 ◽  
Vol 8 (3) ◽  
pp. 273-275 ◽  
Author(s):  
Tomoya Hamaguchi ◽  
Hiromu Nakajima ◽  
Tamio Noguchi ◽  
Chisa Nakagawa ◽  
Masamichi Kuwajima ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Japanese Patient ◽  
Mild Form ◽  
M Gene

A Missense Mutation in the .BETA.-Myosin Heavy Chain Gene in a Japanese Patient With Hypertrophic Cardiomyopathy.

1995 ◽  
Vol 59 (12) ◽  
pp. 833-837 ◽  
Author(s):  
Chieko Nakajima-Taniguchi ◽  
Junichi Azuma ◽  
Seiki Nagata ◽  
Tadamitsu Kishimoto ◽  
Keiko Yamauchi-Takihara
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Myosin Heavy Chain ◽  
Missense Mutation ◽  
Heavy Chain ◽  
Japanese Patient ◽  
Chain Gene ◽  
Heavy Chain Gene ◽  
Myosin Heavy Chain Gene

scholarly journals A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal

2000 ◽  
Vol 45 (2) ◽  
pp. 112-114 ◽  
Author(s):  
Koji Okuhara ◽  
Toshihiro Tajima ◽  
Jun Nakae ◽  
Kenji Fujieda
Keyword(s):  
Missense Mutation ◽  
Japanese Patient ◽  
Sex Reversal ◽  
Sry Gene ◽  
Hmg Box ◽  
Xy Sex Reversal

scholarly journals Missense mutation (I143T) in a Japanese patient with Canavan disease

1998 ◽  
Vol 11 (S1) ◽  
pp. S308-S309 ◽  
Author(s):  
Keiko Kobayashi ◽  
Seiichi Tsujino ◽  
Takanori Ezoe ◽  
Hiroshi Hamaguchi ◽  
Kenji Nihei ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Japanese Patient ◽  
Canavan Disease

Waardenburg syndrome type IIE in a Japanese patient caused by a novel missense mutation in theSOX10gene

2015 ◽  
Vol 42 (12) ◽  
pp. 1211-1212 ◽  
Author(s):  
Ken Okamura ◽  
Naoki Oiso ◽  
Gen Tamiya ◽  
Satoshi Makino ◽  
Daishi Tsujioka ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Japanese Patient ◽  
Syndrome Type ◽  
Waardenburg Syndrome
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