Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa

British Journal of Ophthalmology

Volumn 92, Issue 10, 2008, Pages 1419-1423

  Brea Fernandez A J ^a,b   Pomares, E ^b,c   Brion M J ^a,b   Marfany, G ^b,c   Blanco, M J ^d   Sanchez Salorio M ^e   Gonzalez Duarte R ^b,c   Carracedo, A ^a,b,f  

^a UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

^d HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^e Fundación Institute Galego de Oftalmoloxía Consellería de Sanidade   (Spain)

^f Fundacion Publica Galega de Medicina Xenomica   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; PROTEIN TYROSINE KINASE;

AMINO ACID SUBSTITUTION; ARTICLE; CONSANGUINEOUS MARRIAGE; DNA DETERMINATION; EXON; FRAMESHIFT MUTATION; GENE DISRUPTION; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HIGH THROUGHPUT SCREENING; HUMAN; HUMAN CELL; INTRON; MERTK GENE; MUTATIONAL ANALYSIS; MUTATOR GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RNA SPLICING; SCREENING TEST; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

ALTERNATIVE SPLICING; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXONS; GENES, DOMINANT; HUMANS; INTRONS; MALE; MUTATION; PHENOTYPE; PROTO-ONCOGENE PROTEINS; RECEPTOR PROTEIN-TYROSINE KINASES; RETINAL DEGENERATION; RETINITIS PIGMENTOSA; RNA SPLICE SITES; RNA SPLICING;

EID: 53649096545     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2008.139204     Document Type: Article

References (23)

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