A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1

2016 ◽  
Vol 38 (7) ◽  
pp. 674-677 ◽  
Author(s):  
Yo Niida ◽  
Ayano Yokoi ◽  
Mondo Kuroda ◽  
Yusuke Mitani ◽  
Hiroyasu Nakagawa ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Chromosome 1 ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis ◽  
Uniparental Isodisomy

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

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

2017 ◽  
Vol 39 (2) ◽  
pp. 182-183 ◽  
Author(s):  
Lorena Travaglini ◽  
Chiara Aiello ◽  
Viola Alesi ◽  
Sara Loddo ◽  
Antonio Novelli ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Ceroid Lipofuscinosis ◽  
Recessive Mutations
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