Literature DB >> 10874327

Three novel mutations (P215L, T289P, and 3811-2 A-->G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families.

M Martinez-Gimeno1, M J Trujillo, I Lorda, A Gimenez, M T Calvo, C Ayuso, M Carballo.   

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Year:  2000        PMID： 10874327     DOI： 10.1002/1098-1004(200007)16:1<95::AID-HUMU31>3.0.CO;2-0

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  4 in total

1.  Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.

Authors:  A Schuster; N Weisschuh; H Jägle; D Besch; A R Janecke; H Zierler; S Tippmann; E Zrenner; B Wissinger
Journal:  Br J Ophthalmol       Date:  2005-10       Impact factor: 4.638

2.  The Retinitis Pigmentosa-Linked Mutations in Transmembrane Helix 5 of Rhodopsin Disrupt Cellular Trafficking Regardless of Oligomerization State.

Authors:  D Paul Mallory; Elizabeth Gutierrez; Margaret Pinkevitch; Christie Klinginsmith; William D Comar; Francis J Roushar; Jonathan P Schlebach; Adam W Smith; Beata Jastrzebska
Journal:  Biochemistry       Date:  2018-08-21       Impact factor: 3.162

3.  Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.

Authors:  Fiona Blanco-Kelly; María García-Hoyos; Marta Cortón; Almudena Avila-Fernández; Rosa Riveiro-Álvarez; Ascensión Giménez; Inma Hernan; Miguel Carballo; Carmen Ayuso
Journal:  Mol Vis       Date:  2012-06-05       Impact factor: 2.367

4.  Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.

Authors:  Johannes Birtel; Martin Gliem; Kristina Hess; Theresa H Birtel; Frank G Holz; Ulrich Zechner; Hanno J Bolz; Philipp Herrmann
Journal:  Genes (Basel)       Date:  2020-01-28       Impact factor: 4.096
  4 in total

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