Literature DB >> 9196401

A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555-->stop) in the CHM gene leads to choroideremia.

P Forsythe, A Maguire, R Fujita, C Moen, A Swaroop, J Bennett.   

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Year:  1997        PMID： 9196401     DOI： 10.1006/exer.1996.0200

Source DB:  PubMed          Journal:  Exp Eye Res        ISSN： 0014-4835            Impact factor:   3.467


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  5 in total

1.  Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.

Authors:  José A J M van den Hurk; Dorien J R van de Pol; Bernd Wissinger; Marc A van Driel; Lies H Hoefsloot; Ilse J de Wijs; L Ingeborgh van den Born; John R Heckenlively; Han G Brunner; Eberhart Zrenner; Hans-Hilger Ropers; Frans P M Cremers
Journal:  Hum Genet       Date:  2003-06-25       Impact factor: 4.132

2.  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

3.  AAV-mediated gene therapy for choroideremia: preclinical studies in personalized models.

Authors:  Vidyullatha Vasireddy; Jason A Mills; Rajashekhar Gaddameedi; Etiena Basner-Tschakarjan; Monika Kohnke; Aaron D Black; Krill Alexandrov; Shangzhen Zhou; Albert M Maguire; Daniel C Chung; Helen Mac; Lisa Sullivan; Paul Gadue; Jeannette L Bennicelli; Deborah L French; Jean Bennett
Journal:  PLoS One       Date:  2013-05-07       Impact factor: 3.240

Review 4.  Recent advances and future prospects in choroideremia.

Authors:  Martin S Zinkernagel; Robert E MacLaren
Journal:  Clin Ophthalmol       Date:  2015-11-23

5.  Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.

Authors:  Feng-Juan Gao; Guo-Hong Tian; Fang-Yuan Hu; Dan-Dan Wang; Jian-Kang Li; Qing Chang; Fang Chen; Ge-Zhi Xu; Wei Liu; Ji-Hong Wu
Journal:  BMC Ophthalmol       Date:  2020-06-01       Impact factor: 2.209
  5 in total

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