Literature DB >> 8069314

A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.

S Fuchs1, S Y Xu, M Caballero, M Salcedo, A La O, H Wedemann, A Gal.   

Abstract

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Year:  1994        PMID： 8069314     DOI： 10.1093/hmg/3.4.655

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


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  5 in total

1.  Silencing of Aberrant Secretory Protein Expression by Disease-Associated Mutations.

Authors:  Elena B Tikhonova; Zemfira N Karamysheva; Gunnar von Heijne; Andrey L Karamyshev
Journal:  J Mol Biol       Date:  2019-05-14       Impact factor: 5.469

2.  Mutations in the Norrie disease gene: a new mutation in a Japanese family.

Authors:  Y Isashiki; N Ohba; T Yanagita; N Hokita; Y Hotta; M Hayakawa; K Fujiki; U Tanabe
Journal:  Br J Ophthalmol       Date:  1995-07       Impact factor: 4.638

3.  A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.

Authors:  Bei Jia; Liping Huang; Yaoyu Chen; Siping Liu; Cuihua Chen; Ke Xiong; Lanlin Song; Yulai Zhou; Xinping Yang; Mei Zhong
Journal:  J Genet       Date:  2017-12       Impact factor: 1.166

Review 4.  Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.

Authors:  James Wawrzynski; Aara Patel; Abdul Badran; Isaac Dowell; Robert Henderson; Jane C Sowden
Journal:  Front Genet       Date:  2022-05-16       Impact factor: 4.772

Review 5.  Translational Control of Secretory Proteins in Health and Disease.

Authors:  Andrey L Karamyshev; Elena B Tikhonova; Zemfira N Karamysheva
Journal:  Int J Mol Sci       Date:  2020-04-06       Impact factor: 5.923
  5 in total

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