Literature DB >> 7951216

Missense mutation in the choroideremia gene.

P Donnelly1, H Menet, C Fouanon, O Herbert, J P Moisan, M G Le Roux, O Pascal.   

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Year:  1994        PMID： 7951216     DOI： 10.1093/hmg/3.6.1017

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  5 in total

1.  Amino- and carboxy-terminal domains of the yeast Rab escort protein are both required for binding of Ypt small G proteins.

Authors:  B E Bauer; S Lorenzetti; M Miaczynska; D M Bui; R J Schweyen; A Ragnini
Journal:  Mol Biol Cell       Date:  1996-10       Impact factor: 4.138

2.  Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation.

Authors:  Alex S Huang; Leo A Kim; Amani A Fawzi
Journal:  Arch Ophthalmol       Date:  2012-09

3.  A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings.

Authors:  Yutaka Iino; Takuro Fujimaki; Keiko Fujiki; Akira Murakami
Journal:  Jpn J Ophthalmol       Date:  2008-09-05       Impact factor: 2.447

4.  The small GTPase RAB28 is required for phagocytosis of cone outer segments by the murine retinal pigmented epithelium.

Authors:  Guoxin Ying; Karsten Boldt; Marius Ueffing; Cecilia D Gerstner; Jeanne M Frederick; Wolfgang Baehr
Journal:  J Biol Chem       Date:  2018-09-18       Impact factor: 5.157

5.  A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

Authors:  Rocio Sanchez-Alcudia; Maria Garcia-Hoyos; Miguel Angel Lopez-Martinez; Noelia Sanchez-Bolivar; Olga Zurita; Ascension Gimenez; Cristina Villaverde; Luciana Rodrigues-Jacy da Silva; Marta Corton; Raquel Perez-Carro; Simona Torriano; Vasiliki Kalatzis; Carlo Rivolta; Almudena Avila-Fernandez; Isabel Lorda; Maria J Trujillo-Tiebas; Blanca Garcia-Sandoval; Maria Isabel Lopez-Molina; Fiona Blanco-Kelly; Rosa Riveiro-Alvarez; Carmen Ayuso
Journal:  PLoS One       Date:  2016-04-12       Impact factor: 3.240
  5 in total

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