Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia

Molecular Syndromology

Volumn 4, Issue 4, 2013, Pages 184-196

  Govani, F S ^a   Giess, A ^b   Mollet, I G ^a   Begbie, M E ^c   Jones, M D ^b   Game, L ^b   Shovlin, C L ^a,d  

^a NHLI Cardiovascular Sciences   (United Kingdom)

^b Clinical Sciences Centre   (United Kingdom)

^c IMPERIAL COLLEGE LONDON   (United Kingdom)

^d HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Alternative splicing; Nonsense mediated decay; Pervasive transcription; Premature termination codons

Indexed keywords

ENDOGLIN; L ENDOGLIN; RNA; UNCLASSIFIED DRUG;

ARTICLE; CODON; EXON; GENE EXPRESSION; GENE MUTATION; HIGH THROUGHPUT SEQUENCING; HUMAN; IN VITRO STUDY; NONSENSE MEDIATED MRNA DECAY; NUCLEOTIDE SEQUENCE; PREMATURE TERMINATION CODON; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE; RNA SEQUENCE; RNA TRANSLATION; STOP CODON; ANIMAL CELL; CAPILLARY ENDOTHELIAL CELL; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE LOCUS; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN CELL; INDEL MUTATION; NEXT GENERATION SEQUENCING; NONHUMAN; NONSENSE MUTATION; RAT; SITE DIRECTED MUTAGENESIS;

EID: 84877310162     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000350208     Document Type: Article

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