A recurrent homozygous <i>NHLRC1</i> variant in siblings with Lafora disease.

Araya, Nami; Takahashi, Yukitoshi; Shimono, Masayuki; Fukuda, Tomofumi; Kato, Mitsuhiro; Nakashima, Mitsuko; Matsumoto, Naomichi; Saitsu, Hirotomo

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.

Araya, Nami; Takahashi, Yukitoshi; Shimono, Masayuki; Fukuda, Tomofumi; Kato, Mitsuhiro; Nakashima, Mitsuko; Matsumoto, Naomichi; Saitsu, Hirotomo.

Afiliação

Araya N; National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO, Shizuoka, Japan.
Takahashi Y; National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, NHO, Shizuoka, Japan.
Shimono M; 2Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Fukuoka, Japan.
Fukuda T; 2Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Fukuoka, Japan.
Kato M; 3Department of Pediatrics, School of Medicine, Showa University, Tokyo, Japan.
Nakashima M; 4Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Matsumoto N; 4Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Saitsu H; 5Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Hum Genome Var ; 5: 16, 2018.

Article em En | MEDLINE | ID: mdl-30083360

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Hum Genome Var Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão País de publicação: Reino Unido

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