Literature DB >> 7500785

1342C mutation in Gaucher's disease.

E Beutler, C Kattamis, J Sipe, M Lipson.   

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Year:  1995        PMID： 7500785     DOI： 10.1016/s0140-6736(95)91975-9

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  6 in total

1.  Gaucher's Disease with Cardiac Valve Calcification and Stenosis: A Rare Presentation due to Homozygous p.D409H Mutation in a North Indian Family.

Authors:  Pulkit Rastogi; Sandeep Rao; Jasbir Kaur; Pankaj Malhotra; Subhash Varma; Reena Das
Journal:  Indian J Pediatr       Date:  2016-02-18       Impact factor: 1.967

2.  Gaucher disease plus.

Authors:  E Sidransky; E I Ginns
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

3.  D409H/D409H genotype in Gaucher-like disease.

Authors:  E Uyama; M Uchino; H Ida; Y Eto; M Owada
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

4.  Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.

Authors:  A Chabás; L Gort; M Montfort; F Castelló; M C Domínguez; D Grinberg; L Vilageliu
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

5.  Heat shock proteins and small nucleolar RNAs are dysregulated in a Drosophila model for feline hypertrophic cardiomyopathy.

Authors:  Christian A Tallo; Laura H Duncan; Akihiko H Yamamoto; Joshua D Slaydon; Gunjan H Arya; Lavanya Turlapati; Trudy F C Mackay; Mary A Carbone
Journal:  G3 (Bethesda)       Date:  2021-01-18       Impact factor: 3.154

6.  Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study).

Authors:  Cecilia Lazea; Simona Bucerzan; Camelia Al-Khzouz; Anca Zimmermann; Ștefan Cristian Vesa; Ioana Nașcu; Victoria Creț; Mirela Crișan; Carmen Asăvoaie; Diana Miclea; Paula Grigorescu-Sido
Journal:  Diagnostics (Basel)       Date:  2021-05-29
  6 in total

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