Medical genetics: advances in brief: Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci [PDF]
, 1994 J. C K Barber
openalex +1 more source
Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa. [PDF]
J Korean Med SciPark HS +7 more
europepmc +1 more source
Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4) [PDF]
, 1995 Rajendra Kumar‐Singh +5 more
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Loss of Peripheral Retinal Vessels in Retinitis Pigmentosa. [PDF]
Ophthalmol SciAmeri H, Hong AT, Chwa J.
europepmc +1 more source
Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa [PDF]
, 1999 Alan J. Mears +9 more
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Syndromic Retinitis Pigmentosa: A Narrative Review. [PDF]
Vision (Basel)Janáky M, Braunitzer G.
europepmc +1 more source
Mutations in the RP2 Gene Cause Disease in 10% of Families with Familial X-Linked Retinitis Pigmentosa Assessed in This Study [PDF]
, 1999 Alison J. Hardcastle +8 more
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Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa. [PDF]
J Clin MedZehe-Lindau N +5 more
europepmc +1 more source
Polygenic Disease and Retinitis Pigmentosa: Albinism Exacerbates Photoreceptor Degeneration Induced by the Expression of a Mutant Opsin in Transgenic Mice [PDF]
, 1996 Muna I. Naash +4 more
openalex +1 more source
Rare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa. [PDF]
J Vitreoretin DisSeela JR, Moon JY, Montezuma SR.
europepmc +1 more source