Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy

Journal of Human Genetics

Volumn 53, Issue 6, 2008, Pages 565-572

  Oliveira, Jorge ^a   Soares Silva, Isabel ^a   Fokkema, Ivo ^b   Gonçalves, Ana ^a   Cabral, Alexandra ^c   Diogo, Luísa ^c   Galán, Lucía ^d   Guimarães, António ^d   Fineza, Isabel ^c   Den Dunnen, Johan T ^b   Santos, Rosário ^a  

^a NATIONAL INSTITUTE OF HEALTH   (Portugal)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^d HOSPITAL DE SANTO ANTÓNIO   (Portugal)

Author keywords

Congenital muscular dystrophy; Exon skipping; Exonic splice silencer; POMGNT1; Silent mutation

Indexed keywords

N ACETYLGLUCOSAMINYLTRANSFERASE; PROTEIN POMGNT 1;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COMPUTER MODEL; CONTROLLED STUDY; DATA BASE; DNA POLYMORPHISM; EXON; FEMALE; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENE EXPRESSION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; RNA PROCESSING; SCREENING; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 44449085738     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-008-0263-5     Document Type: Article

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