Literature DB >> 16604398

Null ABCA4 gene mutations found in Japanese patients with panretinal degeneration.

Takehiro Fukui, Takashi Fujikado, Motokazu Tsujikawa, Masaki Okada, Shuji Yamamoto, Yasuo Tano.   

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Year:  2006        PMID： 16604398     DOI： 10.1007/s10384-005-0279-8

Source DB:  PubMed          Journal:  Jpn J Ophthalmol        ISSN： 0021-5155            Impact factor:   2.447


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  5 in total

1.  Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR.

Authors:  A Martínez-Mir; E Paloma; R Allikmets; C Ayuso; T del Rio; M Dean; L Vilageliu; R Gonzàlez-Duarte; S Balcells
Journal:  Nat Genet       Date:  1998-01       Impact factor: 38.330

2.  The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.

Authors:  A Maugeri; M A van Driel; D J van de Pol; B J Klevering; F J van Haren; N Tijmes; A A Bergen; K Rohrschneider; A Blankenagel; A J Pinckers; N Dahl; H G Brunner; A F Deutman; C B Hoyng; F P Cremers
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

3.  A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

Authors:  R Allikmets; N Singh; H Sun; N F Shroyer; A Hutchinson; A Chidambaram; B Gerrard; L Baird; D Stauffer; A Peiffer; A Rattner; P Smallwood; Y Li; K L Anderson; R A Lewis; J Nathans; M Leppert; M Dean; J R Lupski
Journal:  Nat Genet       Date:  1997-03       Impact factor: 38.330

4.  Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

Authors:  C E Briggs; D Rucinski; P J Rosenfeld; T Hirose; E L Berson; T P Dryja
Journal:  Invest Ophthalmol Vis Sci       Date:  2001-09       Impact factor: 4.799

5.  ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa.

Authors:  Takehiro Fukui; Shuji Yamamoto; Kaoru Nakano; Motokazu Tsujikawa; Hiroyuki Morimura; Koji Nishida; Nobuyuki Ohguro; Takashi Fujikado; Motohiro Irifune; Kazuki Kuniyoshi; Annabelle A Okada; Akito Hirakata; Yozo Miyake; Yasuo Tano
Journal:  Invest Ophthalmol Vis Sci       Date:  2002-09       Impact factor: 4.799
  5 in total
  1 in total

1.  ABCA4 disease progression and a proposed strategy for gene therapy.

Authors:  Artur V Cideciyan; Malgorzata Swider; Tomas S Aleman; Yaroslav Tsybovsky; Sharon B Schwartz; Elizabeth A M Windsor; Alejandro J Roman; Alexander Sumaroka; Janet D Steinberg; Samuel G Jacobson; Edwin M Stone; Krzysztof Palczewski
Journal:  Hum Mol Genet       Date:  2008-12-12       Impact factor: 6.150
  1 in total

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