Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

Hamanaka, Kohei; Miyatake, Satoko; Zerem, Ayelet; Lev, Dorit; Blumkin, Luba; Yokochi, Kenji; Fujita, Atsushi; Imagawa, Eri; Iwama, Kazuhiro; Nakashima, Mitsuko; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Saitsu, Hirotomo; van der Knaap, Marjo S.; Lerman-Sagie, Tally; Matsumoto, Naomichi

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Springer Nature [academic journals on nature.com], Journal of Human Genetics, 12(63), p. 1223-1229, 2018

DOI: 10.1038/s10038-018-0516-x

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Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

Journal article published in 2018 by Kohei Hamanaka, Satoko Miyatake, Ayelet Zerem, Dorit Lev, Luba Blumkin, Kenji Yokochi, Atsushi Fujita, Eri Imagawa, Kazuhiro Iwama

, Mitsuko Nakashima, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata

, Noriko Miyake, Hirotomo Saitsu

and other authors.

This paper is made freely available by the publisher.

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Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic