Molecular characteristics in Japanese patients with lipidosis: Novel mutations in metachromatic leukodystrophy and Gaucher disease

1993 ◽  
Vol 119 (1-2) ◽  
pp. 179-184 ◽  
Author(s):  
Yoshikatsu Eto ◽  
Hiroshi Kawame ◽  
Yoriyasu Hasegawa ◽  
Toya Ohashi ◽  
Hiroyuki Ida ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Metachromatic Leukodystrophy ◽  
Japanese Patients ◽  
Molecular Characteristics ◽  
Novel Mutations

Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks

2009 ◽  
Vol 380 (3) ◽  
pp. 548-553 ◽  
Author(s):  
Naoyuki Sato ◽  
Tomohiro Nakayama ◽  
Yoshihiro Mizutani ◽  
Mitsuko Yuzawa
Keyword(s):  
Japanese Patients ◽  
Angioid Streaks ◽  
Novel Mutations ◽  
Abcc6 Gene

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease

2014 ◽  
Vol 59 (4) ◽  
pp. 223-228 ◽  
Author(s):  
Chitra Ankleshwaria ◽  
Mehul Mistri ◽  
Ashish Bavdekar ◽  
Mamta Muranjan ◽  
Usha Dave ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutations ◽  
Indian Patients ◽  
Glucocerebrosidase Gene

Two novel mutations ofPTEN gene in Japanese patients with Cowden syndrome

2004 ◽  
Vol 128A (1) ◽  
pp. 12-14 ◽  
Author(s):  
Takeshi Sawada ◽  
Toshihide Okada ◽  
Kazuhiro Miwa ◽  
Hiro Satoh ◽  
Akimichi Asano ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Cowden Syndrome ◽  
Novel Mutations

scholarly journals Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency

2007 ◽  
Vol 52 (12) ◽  
pp. 1040-1043 ◽  
Author(s):  
Mitsugu Uematsu ◽  
Osamu Sakamoto ◽  
Noriko Sugawara ◽  
Naonori Kumagai ◽  
Tetsuji Morimoto ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Novel Mutations

Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy

Gene ◽  
2013 ◽  
Vol 530 (2) ◽  
pp. 323-328 ◽  
Author(s):  
Paola Luzi ◽  
Mohammad A. Rafi ◽  
Han Zhi Rao ◽  
David A. Wenger
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Arylsulfatase A ◽  
Novel Mutations
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