Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites

Human Mutation

Volumn 30, Issue 9, 2009, Pages 1329-1339

  Le Guédard Méreuze, Sandie ^a   Vaché, Christel ^b   Molinari, Nicolas ^c   Vaudaine, Julie ^a   Claustres, Mireille ^a,b,d   Roux, Anne Françoise ^a,b   Tuffery Giraud, Sylvie ^a,d  

^a INSERM   (France)

^b HÔPITAL ARNAUD DE VILLENEUVE   (France)

^c NÎMES UNIVERSITY HOSPITAL   (France)

^d UNIV MONTPELLIER   (France)

Author keywords

Donor splice sites; PCDH15; Position +3; Sequence context; USH2A

Indexed keywords

NUCLEIC ACID BASE; NUCLEOTIDE; RNA; SMALL NUCLEAR RIBONUCLEOPROTEIN; SMALL NUCLEAR RNA;

ANALYSIS; ARTICLE; BIOSTATISTICS; COMPARATIVE STUDY; CONTROLLED STUDY; EXPERIMENTAL STUDY; FEMALE; GENE; GENE SEQUENCE; HUMAN; HUMAN CELL; MOLECULAR RECOGNITION; MUTANT; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PLASMID; PRIORITY JOURNAL; RNA SPLICING;

BASE SEQUENCE; CADHERINS; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; GENETIC VARIATION; HELA CELLS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; RIBONUCLEOPROTEIN, U1 SMALL NUCLEAR; RNA SPLICE SITES; RNA, SMALL NUCLEAR;

EID: 69549109964     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21070     Document Type: Article

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