Literature DB >> 12042139

[Phenotypic variation in a family affected by autosomal dominant retinal dystrophy caused by the Gly208Asp mutation in the RDS peripherin gene].

María José Trujillo Tiebas, Ascensión Giménez Pardo, Blanca García Sandoval, Carmen Ayuso García.   

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Year:  2002        PMID： 12042139     DOI： 10.1016/s0025-7753(02)72505-0

Source DB:  PubMed          Journal:  Med Clin (Barc)        ISSN： 0025-7753            Impact factor:   1.725


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  2 in total

1.  PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.

Authors:  Manon H C A Peeters; Mubeen Khan; Anoek A M B Rooijakkers; Timo Mulders; Lonneke Haer-Wigman; Camiel J F Boon; Caroline C W Klaver; L Ingeborgh van den Born; Carel B Hoyng; Frans P M Cremers; Anneke I den Hollander; Claire-Marie Dhaenens; Rob W J Collin
Journal:  Hum Mutat       Date:  2021-09-20       Impact factor: 4.700

2.  Molecular characterization of the skate peripherin/rds gene: relationship to its orthologues and paralogues.

Authors:  Chibo Li; Xi-Qin Ding; John O'Brien; Muayyad R Al-Ubaidi; Muna I Naash
Journal:  Invest Ophthalmol Vis Sci       Date:  2003-06       Impact factor: 4.799
  2 in total

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