Literature DB >> 10417302

Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin.

S Khaliq, A Hameed, M Ismail, S Q Mehdi, D A Bessant, A M Payne, S S Bhattacharya.   

Abstract

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Year:  1999        PMID： 10417302      PMCID： PMC1377958          DOI： 10.1086/302493

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  5 in total

1.  Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.

Authors:  Yukan Huang; Jing Zhang; Chang Li; Guohua Yang; Mugen Liu; Qing K Wang; Zhaohui Tang
Journal:  BMC Med Genet       Date:  2010-08-10       Impact factor: 2.103

2.  Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.

Authors:  M M Abd El-Aziz; I Barragan; C O'Driscoll; S Borrego; L Abu-Safieh; J I Pieras; M F El-Ashry; E Prigmore; N Carter; G Antinolo; S S Bhattacharya
Journal:  Ann Hum Genet       Date:  2007-05-29       Impact factor: 1.670

3.  Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.

Authors:  Yuuki Arai; Akiko Maeda; Yasuhiko Hirami; Chie Ishigami; Shinji Kosugi; Michiko Mandai; Yasuo Kurimoto; Masayo Takahashi
Journal:  J Ophthalmol       Date:  2015-06-16       Impact factor: 1.909

Review 4.  Genetics of Inherited Retinal Diseases in Understudied Populations.

Authors:  Chitra Kannabiran; Deepika Parameswarappa; Subhadra Jalali
Journal:  Front Genet       Date:  2022-02-28       Impact factor: 4.599

5.  EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

Authors:  Mai M Abd El-Aziz; Isabel Barragan; Ciara A O'Driscoll; Leo Goodstadt; Elena Prigmore; Salud Borrego; Marcela Mena; Juan I Pieras; Mohamed F El-Ashry; Leen Abu Safieh; Amna Shah; Michael E Cheetham; Nigel P Carter; Christina Chakarova; Chris P Ponting; Shomi S Bhattacharya; Guillermo Antinolo
Journal:  Nat Genet       Date:  2008-10-05       Impact factor: 38.330
  5 in total

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