Reactome | Matsumoto, N

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created	[InstanceEdit:3621807] Jassal, B, 2013-05-24
dbId	3621829
displayName	Matsumoto, N
firstname	Naomichi
initial	N
publications	[LiteratureReference:5607061] Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities [LiteratureReference:4088395] Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE) [LiteratureReference:3621760] PAPSS2 mutations cause autosomal recessive brachyolmia [LiteratureReference:9706001] De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy [LiteratureReference:9944939] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome [LiteratureReference:5652108] De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy [LiteratureReference:9651037] Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome [LiteratureReference:5692971] De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood [LiteratureReference:3636906] Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome [LiteratureReference:4420321] Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders
schemaClass	Person
surname	Matsumoto

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