Saito Kayoko
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine
   Position   Professor (Fixed Term)
Article types Original article
Language English
Peer review Non peer reviewed
Title Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing
Journal Formal name:American journal of medical genetics. Part A
Abbreviation:Am J Med Genet A
ISSN code:15524825/15524833
Volume, Issue, Page 158(A),pp.772-778
Author and coauthor Kondo Eri†, Nishimura Takafumi†, Kosho Tomoki, Inaba Yuji, Mitsuhashi Satomi, Ishida Takefumi, Baba Atsushi, Koike Kenichi, Nishino Ichizo, Nonaka Ikuya, Furukawa Toru, Saito Kayoko*
Authorship Corresponding author
Publication date 2012/03