Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

Molecular Vision

Volumn 20, Issue , 2014, Pages 843-851

  Benaglio, Paola ^a   San Jose, Patricia Fernandez ^b,c   Avila Fernandez, Almudena ^b,c   Ascari, Giulia ^a   Harper, Shyana ^d   Manes, Gaël ^e   Ayuso, Carmen ^b,c   Hamel, Christian ^e   Berson, Eliot L ^d   Rivolta, Carlo ^a  

^a UNIVERSITY OF LAUSANNE   (Switzerland)

^b HOSPITAL UNIVERSITARIO FUNDACIÓN JIMÉNEZ DÍAZ   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d HARVARD MEDICAL SCHOOL   (United States)

^e HÔPITAL SAINT ELOI   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; CYSTEINE; CYTOSINE; GUANINE; HISTIDINE; ISOLEUCINE; LEUCINE; PROLINE; THREONINE; THYMINE;

5' UNTRANSLATED REGION; AAR2 GENE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; EFTUD2 GENE; ETHNICITY; EXON; FRAMESHIFT MUTATION; GENE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NHP2L1 GENE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PRPF4 GENE; RETINITIS PIGMENTOSA; SANGER SEQUENCING; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICEOSOME; SPLICING FACTOR GENE;

DNA MUTATIONAL ANALYSIS; GENES, DOMINANT; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; OPEN READING FRAMES; PEPTIDE ELONGATION FACTORS; RETINITIS PIGMENTOSA; RIBONUCLEOPROTEIN, U4-U6 SMALL NUCLEAR; RIBONUCLEOPROTEINS, SMALL NUCLEAR; RNA SPLICING;

EID: 84903133567     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (42)

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