A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly (Q28118296)

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title

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly (English)

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author name string

Ganeshwaran H. Mochida

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Muhammad Mahajnah

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Anthony D. Hill

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Lina Basel-Vanagaite

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Danielle Gleason

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R. Sean Hill

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Adria Bodell

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Moira Crosier

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Rachel Straussberg

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Christopher A. Walsh

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publication date

1 December 2009

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American Journal of Human Genetics

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published in

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page(s)

897–902

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The DNA sequence of the human X chromosome

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cites work

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Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways

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Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

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A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

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A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

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The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

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Mutants in trs120 disrupt traffic from the early endosome to the late Golgi

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10.1016/j.ajhg.2009.10.027

Identifiers

DOI

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