Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

Human Mutation

Volumn 38, Issue 2, 2017, Pages 148-151

  Matalonga, Leslie ^a   Bravo, Miren ^a   Serra Peinado, Carla ^b   García Pelegrí, Elisabeth ^a   Ugarteburu, Olatz ^a   Vidal, Silvia ^a   Llambrich, Maria ^a   Quintana, Ester ^a   Fuster Jorge, Pedro ^c   Gonzalez Bravo, Maria Nieves ^c   Beltran, Sergi ^d,e   Dopazo, Joaquin ^f   Garcia Garcia, Francisco ^f   Foulquier, François ^g   Matthijs, Gert ^h   Mills, Philippa ⁱ   Ribes, Antonia ^a   Egea, Gustavo ^b   Briones, Paz ^a   Tort, Frederic ^a   Girós, Marisa ^a   more..

^a INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

^c HOSPITAL UNIVERSITARIO DE CANARIAS   (Spain)

^d CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^e UNIVERSITAT POMPEU FABRA   (Spain)

^f CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

^g UNIV LILLE   (France)

^h UNIVERSITY OF LEUVEN   (Belgium)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

CDG; endoplasmic reticulum; Golgi; TRAPPC11; vesicle trafficking

Indexed keywords

GLYCAN DERIVATIVE; TRAPPC11 PROTEIN, HUMAN; VESICULAR TRANSPORT PROTEIN;

ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; FACIES; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; INFANT; ISOELECTRIC FOCUSING; MALE; MISSENSE MUTATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SANGER SEQUENCING; SURFACE ENHANCED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; TRAPPC11 GENE; WHOLE EXOME SEQUENCING; ABNORMALITIES; ALLELE; AMINO ACID SUBSTITUTION; BRAIN; DIAGNOSTIC IMAGING; GENETICS; GENOTYPE; MULTIPLE MALFORMATION SYNDROME; MUTATION; PHENOTYPE; PROCEDURES; WHOLE GENOME SEQUENCING;

ABNORMALITIES, MULTIPLE; ALLELES; AMINO ACID SUBSTITUTION; BRAIN; CONGENITAL DISORDERS OF GLYCOSYLATION; GENOTYPE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PHENOTYPE; VESICULAR TRANSPORT PROTEINS; WHOLE GENOME SEQUENCING;

EID: 85008871129     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23145     Document Type: Article

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