Accession number: U57629
Gene: RPGR

Link to the Reference Paper. The accession number of this mRNA is U57629 .
The following files contain the results of information analyses of mutations confirmed or predicted to result in mRNA splicing mutations in RPGR.
These include potential cryptic splice sites.

Donor: sites found that alter the information content of donorsites

Acceptor: sites found that alter the information content of acceptor sites

Unparsable Inconsistencies between the described mutation and the human genome reference sequence, "presently not posted"

Total: sites found that alter the information ocontent of both acceptor and donor sites are listed according to the mutation

Original: : Original Mutation Table


 Published Online: 23 Jan 2001

 HUMAN MUTATION Mutation in Brief #396 (2000) Online

 Five Novel RPGR Mutations in Families with XLinked

 Retinitis Pigmentosa

 Maria Guevara-Fujita1, Stacey Fahrner1, Kinga Buraczynska1, Jason Cook1, Dianna Wheaton2,

 Fanny Cortes3, Cesar Vicencio 3, Marcela Pena3, Gerald A. Fishman4, Helen Mintz-Hittner5, David

 Birch2, Dennis Hoffman2, Alan J. Mears1, Ricardo Fujita1,6 and Anand Swaroop1,7

 1 Departments of Ophthalmology & Visual Sciences and 7Human Genetics, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA; 

 2 Retina Foundation of the Southwest, Dallas, TX, USA; 

 3 INTA Universidad de Chile, Santiago, Chile; 

 4 University of Illinois Eye and Ear Infirmary, Chicago, IL, USA; 

 5 Department of Ophthalmology and Visual Sciences, University of Texas, Houston, TX, USA; 

 6 Facultad de Medicina, Universidad San Martin de Porres, Lima, Peru.


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