Whole USH2A gene sequencing identifies several new deep intronic mutations

Human Mutation

Volumn 37, Issue 2, 2016, Pages 184-193

  Liquori, Alessandro ^a   Vaché, Christel ^a,b   Baux, David ^a,b   Blanchet, Catherine ^b   Hamel, Christian ^b   Malcolm, Sue ^c   Koenig, Michel ^a,b   Claustres, Mireille ^a,b   Roux, Anne Françise ^a,b  

^a UNIVERSITÉ DE MONTPELLIER   (France)

^b MONTPELLIER UNIVERSITY HOSPITAL   (France)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Deep intronic mutation; Minigene assays; NGS; Pseudoexon; Sequence capture; USH2A; Whole gene sequencing

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; MORPHOLINO OLIGONUCLEOTIDE; RNA; MESSENGER RNA; SCLEROPROTEIN; USH2A PROTEIN, HUMAN;

ARTICLE; BIOINFORMATICS; CONTROLLED STUDY; GENE; GENE SEQUENCE; HAPLOTYPE; HUMAN; HUMAN CELL; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; SANGER SEQUENCING; USHER SYNDROME TYPE IIA GENE; BIOLOGY; DNA MUTATIONAL ANALYSIS; EXON; FEMALE; GENE EXPRESSION; GENETICS; HELA CELL LINE; HIGH THROUGHPUT SEQUENCING; INTRON; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; RNA SPLICING; USHER SYNDROME;

BASE SEQUENCE; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENE EXPRESSION; HELA CELLS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MORPHOLINOS; MUTATION; OLIGONUCLEOTIDES, ANTISENSE; PEDIGREE; RNA SPLICING; RNA, MESSENGER; USHER SYNDROMES;

EID: 84947966782     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22926     Document Type: Article

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