Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
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Zebrafish: an important tool for liver disease researchIn sickness and in health: the role of TRAPP and associated proteins in diseasetrappc11 is required for protein glycosylation in zebrafish and humans.Mutations in TRAPPC11 are associated with a congenital disorder of glycosylationIntegrative data mining highlights candidate genes for monogenic myopathies.In vivo cell biology in zebrafish - providing insights into vertebrate development and disease.Genes predict long distance migration and large body size in a migratory fish, Pacific lampreyDisclosure of genetic research results to members of a founder population.Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.The Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesLessons learned from additional research analyses of unsolved clinical exome cases.Genetic basis of limb-girdle muscular dystrophies: the 2014 updatePrenatal diagnosis of congenital myopathies and muscular dystrophies.What is new in CDG?An estimate of the average number of recessive lethal mutations carried by humans.Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite populationIdentification of conserved, centrosome-targeting ASH domains in TRAPPII complex subunits and TRAPPC8Exome Pool-Seq in neurodevelopmental disorders.TRAPPC13 modulates autophagy and the response to Golgi stress.A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.Novel Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy
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Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 03 July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Recessive TRAPPC11 mutations c ...... r and intellectual disability.
@en
Recessive TRAPPC11 mutations c ...... r and intellectual disability.
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type
label
Recessive TRAPPC11 mutations c ...... r and intellectual disability.
@en
Recessive TRAPPC11 mutations c ...... r and intellectual disability.
@nl
prefLabel
Recessive TRAPPC11 mutations c ...... r and intellectual disability.
@en
Recessive TRAPPC11 mutations c ...... r and intellectual disability.
@nl
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Recessive TRAPPC11 mutations c ...... r and intellectual disability.
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A Micheil Innes
Andreas Hahn
Bernd Wollnik
Catrina M Loucks
Christopher L Brett
D Ross McLeod
Daniela Stanga
Darrel Waggoner
Eric G Puffenberger
Francois P Bernier
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P304
P356
10.1016/J.AJHG.2013.05.028
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P577
2013-07-03T00:00:00Z