Novel Mutation in RLBP1 Gene in a Japanese Patient With Retinitis Punctata Albescens

2005 ◽  
Vol 139 (6) ◽  
pp. 1133-1135 ◽  
Author(s):  
Makoto Nakamura ◽  
Jian Lin ◽  
Yasuki Ito ◽  
Yozo Miyake
Keyword(s):  
Japanese Patient ◽  
Novel Mutation ◽  
Retinitis Punctata Albescens

A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy

2003 ◽  
Vol 135 (2) ◽  
pp. 256-257 ◽  
Author(s):  
Satoko Shimizu ◽  
Naoki Mori ◽  
Mari Kishi ◽  
Hirohisa Sugata ◽  
Akiko Tsuda ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Japanese Patient ◽  
Novel Mutation ◽  
Opa1 Gene

A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism

2008 ◽  
Vol 27 (3) ◽  
pp. 386-389 ◽  
Author(s):  
Tasuku Saito ◽  
Seiji Fukumoto ◽  
Nobuaki Ito ◽  
Hisanori Suzuki ◽  
Takashi Igarashi ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Novel Mutation

scholarly journals A novel mutation of CLCNKB in a Japanese patient of Gitelman-like phenotype with diuretic insensitivity to thiazide administration

Meta Gene ◽  
2014 ◽  
Vol 2 ◽  
pp. 342-348 ◽  
Author(s):  
Kumiko Ohkubo ◽  
Tomoe Matsuzaki ◽  
Makiko Yuki ◽  
Ryoko Yoshida ◽  
Yuichi Terawaki ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Novel Mutation

A Novel Mutation of Ribosomal Protein S10 Gene in a Japanese Patient With Diamond-Blackfan Anemia

2012 ◽  
Vol 34 (4) ◽  
pp. 293-295 ◽  
Author(s):  
Makoto Yazaki ◽  
Michi Kamei ◽  
Yasuhiko Ito ◽  
Yuki Konno ◽  
RuNan Wang ◽  
...  
Keyword(s):  
Ribosomal Protein ◽  
Japanese Patient ◽  
Novel Mutation ◽  
Diamond Blackfan Anemia

A novel mutation, P126R, in a Japanese patient with HHH syndrome

2002 ◽  
Vol 26 (1) ◽  
pp. 65-67 ◽  
Author(s):  
Takeshi Miyamoto ◽  
Naomi Kanazawa ◽  
Chiemi Hayakawa ◽  
Seiichi Tsujino
Keyword(s):  
Japanese Patient ◽  
Novel Mutation

Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis

2011 ◽  
Vol 39 (1) ◽  
pp. 87-89 ◽  
Author(s):  
Teruhiko MAKINO ◽  
Megumi FURUICHI ◽  
Yukie ASANO ◽  
Tadamichi SHIMIZU
Keyword(s):  
Japanese Patient ◽  
Novel Mutation ◽  
Epidermolytic Hyperkeratosis

Novel mutation in a fumalate hydratase gene of a Japanese patient with multiple cutaneous and uterine leiomyomatosis

2007 ◽  
Vol 48 (2) ◽  
pp. 151-153 ◽  
Author(s):  
Teruhiko Makino ◽  
Akari Nagasaki ◽  
Megumi Furuichi ◽  
Kotaro Matsui ◽  
Hirokazu Watanabe ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Novel Mutation
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