Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
Page 1 of 1
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
Jon Moulton Mon Jul 13, 2015 4:52 pm
Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015;[Epub ahead of print] doi:10.1038/ng.3354
Jon Moulton- Posts : 5721
Join date : 2010-03-12
Age : 61
Location : Philomath, Oregon, USA -
Similar topics» CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
» CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
» De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
» Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
» Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism
» CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
» De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
» Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
» Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism
Page 1 of 1
Permissions in this forum:
You cannot reply to topics in this forum|
|
|