scholarly journals Molecular Analysis of the CLCNKB Gene in Japanese Patients with Classic Bartter Syndrome

2006 ◽  
Vol 53 (5) ◽  
pp. 647-652 ◽  
Author(s):  
Toshihiro TAJIMA ◽  
Mitsuru NAWATE ◽  
Yutaka TAKAHASHI ◽  
Yumiko MIZOGUCHI ◽  
Shigetaka SUGIHARA ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Japanese Patients ◽  
Bartter Syndrome ◽  
Clcnkb Gene

Molecular analysis of type II 3 -hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 -hydroxysteroid dehydrogenase deficiency

1995 ◽  
Vol 4 (5) ◽  
pp. 969-971 ◽  
Author(s):  
T. Tajima ◽  
K. Fujieda ◽  
J. Nakae ◽  
N. Shinohara ◽  
M. Yoshimoto ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Dehydrogenase Deficiency ◽  
Japanese Patients ◽  
Hydroxysteroid Dehydrogenase ◽  
Type Ii ◽  
Dehydrogenase Gene

scholarly journals Molecular analysis of the α-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations

2002 ◽  
Vol 47 (9) ◽  
pp. 484-487 ◽  
Author(s):  
A. Tanaka ◽  
M. Kimura ◽  
H. T. N. Lan ◽  
N. Takaura ◽  
T. Yamano
Keyword(s):  
Molecular Analysis ◽  
Japanese Patients ◽  
Type B ◽  
Novel Mutations

A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain

2005 ◽  
Vol 20 (7) ◽  
pp. 891-896 ◽  
Author(s):  
Juan Rodríguez-Soriano ◽  
Alfredo Vallo ◽  
Gustavo Pérez de Nanclares ◽  
José Ramón Bilbao ◽  
Luis Castaño
Keyword(s):  
Founder Mutation ◽  
Bartter Syndrome ◽  
Syndrome Type ◽  
Type Iii ◽  
Clcnkb Gene

GM1 gangliosidosis in adults: Clinical and molecular analysis of 16 Japanese patients

1992 ◽  
Vol 31 (3) ◽  
pp. 328-332 ◽  
Author(s):  
Kunihiro Yoshida ◽  
Akihiro Oshima ◽  
Hitoshi Sakuraba ◽  
Takeshi Nakano ◽  
Nobuo Yanagisawa ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Japanese Patients ◽  
Gm1 Gangliosidosis

P0032 PP CLINICAL AND MOLECULAR ANALYSIS OF SEVENTEEN JAPANESE PATIENTS WITH PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS

2004 ◽  
Vol 39 (Supplement 1) ◽  
pp. S68
Author(s):  
M. Hasegawa ◽  
R. Sumazaki ◽  
H. Egawa ◽  
T. Yorifuji ◽  
M. Kage ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Intrahepatic Cholestasis ◽  
Japanese Patients ◽  
Progressive Familial Intrahepatic Cholestasis

Molecular analysis and diagnosis in Japanese patients with Wilson's disease

1999 ◽  
Vol 41 (4) ◽  
pp. 409-413 ◽  
Author(s):  
Norikazu Shimizu ◽  
Hiroki Nakazono ◽  
Yukiko Takeshita ◽  
Chikako Ikeda ◽  
Hideki Fujii ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Wilson’S Disease ◽  
Japanese Patients ◽  
Wilson's Disease

scholarly journals Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

2017 ◽  
Vol 40 (5) ◽  
pp. 685-693 ◽  
Author(s):  
Erika Ogawa ◽  
Masaru Shimura ◽  
Takuya Fushimi ◽  
Makiko Tajika ◽  
Keiko Ichimoto ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Leigh Syndrome ◽  
Japanese Patients ◽  
Clinical Validity

Molecular analysis of HLA class I (HLA-A and -B) and HLA class II (HLA-DRB1) genes in Japanese patients with multiple sclerosis (Western type and Asian type)

1998 ◽  
Vol 52 (6) ◽  
pp. 539-542 ◽  
Author(s):  
T. Ono ◽  
M.R. Zambenedetti ◽  
K. Yamasaki ◽  
Y. Kawano ◽  
N. Kamikawaji ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Molecular Analysis ◽  
Hla Class I ◽  
Japanese Patients ◽  
Class Ii ◽  
Hla Class Ii ◽  
Class I

Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency

1998 ◽  
Vol 21 (8) ◽  
pp. 873-874 ◽  
Author(s):  
O. Sakamoto ◽  
Y. Suzuki ◽  
Y. Aoki ◽  
X. Li ◽  
M. Hiratsuka ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Japanese Patients ◽  
Holocarboxylase Synthetase ◽  
Synthetase Deficiency ◽  
Holocarboxylase Synthetase Deficiency
Sign in / Sign up

Export Citation Format

Share Document