ATP 7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis

2019 ◽  
Vol 61 (4) ◽  
pp. 345-350 ◽  
Author(s):  
Chie Fujisawa ◽  
Hiroko Kodama ◽  
Tomoko Hiroki ◽  
Yoshikiyo Akasaka ◽  
Makoto Hamanoue
Keyword(s):  
Menkes Disease ◽  
Japanese Patients ◽  
Gene Analysis ◽  
Carrier Detection

Gene analysis of ATP7B in japanese patients with wilson's disease

2000 ◽  
Vol 118 (4) ◽  
pp. A1477
Author(s):  
Toshihide Okada ◽  
Yuhta Shiono ◽  
Hisao Hayashi ◽  
Motoyoshi Yano ◽  
Hiroshi Mabuchi
Keyword(s):  
Wilson’S Disease ◽  
Japanese Patients ◽  
Wilson's Disease ◽  
Gene Analysis

Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism

2004 ◽  
Vol 35 (3) ◽  
pp. 215-220 ◽  
Author(s):  
Maki Goto ◽  
Kazuko C. Sato-Matsumura ◽  
Daisuke Sawamura ◽  
Koichi Yokota ◽  
Hideki Nakamura ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Oculocutaneous Albinism ◽  
Gene Analysis ◽  
Tyrosinase Gene

scholarly journals SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome

2011 ◽  
Vol 56 (12) ◽  
pp. 846-851 ◽  
Author(s):  
Natsuko Hashimoto ◽  
Kuriko Kagitani-Shimono ◽  
Norio Sakai ◽  
Takanobu Otomo ◽  
Koji Tominaga ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Japanese Patients ◽  
Deficiency Syndrome ◽  
Gene Analysis ◽  
Glucose Transporter 1 ◽  
Slc2a1 Gene

Gene analysis of CFTR in japanese patients with chronic pancreatitis

2000 ◽  
Vol 118 (4) ◽  
pp. A1142
Author(s):  
Hiroyuki Aoyagi ◽  
Toshihide Okada ◽  
Yuhta Shiono ◽  
Hisashi Doyama ◽  
Ayako Suzuki ◽  
...  
Keyword(s):  
Chronic Pancreatitis ◽  
Japanese Patients ◽  
Gene Analysis

Congenital abnormalities in Japanese patients with Menkes disease

2012 ◽  
Vol 34 (9) ◽  
pp. 746-749 ◽  
Author(s):  
Yan-Hong Gu ◽  
Hiroko Kodama ◽  
Tadaaki Kato
Keyword(s):  
Congenital Abnormalities ◽  
Menkes Disease ◽  
Japanese Patients

scholarly journals Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease

1999 ◽  
Vol 44 (3) ◽  
pp. 206-209 ◽  
Author(s):  
A. Ogawa ◽  
Shigenori Yamamoto ◽  
Masaki Takayanagi ◽  
Toshiaki Kogo ◽  
Masaki Kanazawa ◽  
...  
Keyword(s):  
Menkes Disease ◽  
Japanese Patients ◽  
Novel Mutations ◽  
Mnk Gene

Gene Analysis and Evaluation of the Single Founder Effect in Japanese Patients with Oguchi Disease

2004 ◽  
Vol 48 (4) ◽  
pp. 350-352 ◽  
Author(s):  
Masamichi Saga ◽  
Yukihiko Mashima ◽  
Jun Kudoh ◽  
Yoshihisa Oguchi ◽  
Nobuyoshi Shimizu
Keyword(s):  
Founder Effect ◽  
Japanese Patients ◽  
Gene Analysis ◽  
Analysis And Evaluation ◽  
Oguchi Disease
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