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Journal article

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)

AB McKie, JC McHale, TJ Keen, EE Tarttelin, R Goliath, JJC van Lith-Verhoeven, J Greenberg, RS Ramesar, CB Hoyng, FPM Cremers, DA Mackey, SS Bhattacharya, AC Bird, AF Markham, CF Inglehearn

Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2001

DOI: 10.1093/hmg/10.15.1555

University of Melbourne Researchers

David Mackey's Profile Picture
David Mackey Author Ophthalmology Eye and Ear Hospital

Citation metrics

196Web of Science
211Scopus
215Dimensions

Keywords

Biochemistry & Molecular Biology
Arabidopsis
Chromosomes, Human, Pair 17
South Africa
Family Health
Trypanosoma
Exon
Locus
Genetic Linkage
Conservation
Rna Precursors
Codon
Mutation
Science & Technology
Interacts
Molecular Sequence Data
Restriction Mapping
Female
Pedigree
Retina
Family
Rna Splicing
Dna Mutational Analysis
U5 Snrnp
Rna, Messenger
Protein
Expressed Sequence Tags
Retinitis Pigmentosa
Reverse Transcriptase Polymerase Chain Reaction
Base Sequence
Genes, Dominant
Chromosome Mapping
Humans
Male
Rp13
Blotting, Northern
17p13.3
Region
Mutation, Missense
Models, Genetic
Conserved Sequence
Life Sciences & Biomedicine
Exons
Animals
Genetics & Heredity

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