Neurofilament light chain polypeptide gene mutations in Charcot–Marie–Tooth disease: nonsense mutation probably causes a recessive phenotype

Journal of Human Genetics - Tập 54 Số 2 - Trang 94-97 - 2009
Akiko Abe1, Chikahiko Numakura1, Kayoko Saito2, Hiroyoshi Koide3, Nobuyuki Oka4, Akira Honma5, Yumiko Kishikawa1, Kiyoshi Hayasaka1
1Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
2Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan
3Hallo Clinic, Saitama, Japan
4NHO Minami-Kyoto Hospital, Kyoto, Japan
5Honma Child Clinic, Yamagata, Japan

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