Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

Human Mutation

Volumn 31, Issue 5, 2010, Pages

  Towns, Katherine V ^a   Kipioti, Athina ^a,b   Long, Vernon ^a   McKibbin, Martin ^a   Maubaret, Cecilia ^c   Vaclavik, Veronika ^d   Ehsani, Parastoo ^e   Springell, Kelly ^a   Kamal, Mohammed ^a   Ramesar, Raj S ^f   Mackey, David A ^g   Moore, Anthony T ^c   Mukhopadhyay, Rajarshi ^c   Webster, Andrew R ^c   Black, Graeme C M ^h   O'Sullivan, James ^h   Bhattacharya, Shomi S ^c   Pierce, Eric A ⁱ   Beggs, Jean D ^e   Inglehearn, Chris F ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b BIRMINGHAM HEARTLANDS HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d HÔPITAL OPHTALMIQUE JULES GONIN   (Switzerland)

^e UNIVERSITY OF EDINBURGH   (United Kingdom)

^f UNIVERSITY OF CAPE TOWN   (South Africa)

^g ROYAL VICTORIAN EYE AND EAR HOSPITAL   (Australia)

^h UNIVERSITY OF MANCHESTER   (United Kingdom)

ⁱ UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

adRP; mRNA splicing; PRPF8; Retinitis pigmentosa

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CELL NUCLEUS; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FEMALE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN VERSUS NONHUMAN DATA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; RETINA MACULA CYSTOID EDEMA; RETINITIS PIGMENTOSA; RNA SPLICING; SCHOOL CHILD; SPLICEOSOME; SPLICING DEFECT; VISUAL ACUITY; YEAST; YEAST CELL;

ADOLESCENT; ADULT; AGED; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PROGNOSIS; RETINITIS PIGMENTOSA; YEASTS; YOUNG ADULT;

EID: 77951794446     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21236     Document Type: Article

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