Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan

2016 ◽  
Vol 38 (3) ◽  
pp. 341-345 ◽  
Author(s):  
Yu Katata ◽  
Mitsugu Uematsu ◽  
Hiroki Sato ◽  
Sato Suzuki ◽  
Tojo Nakayama ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Neuronal Ceroid Lipofuscinosis ◽  
First Report ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis

scholarly journals Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCLFinnish; CLN5)

1999 ◽  
Vol 19 (7) ◽  
pp. 685-688 ◽  
Author(s):  
Juhani Rapola ◽  
Jaana Lähdetie ◽  
Juha Isosomppi ◽  
Päivi Helminen ◽  
Maila Penttinen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis
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