Literature DB >> 28420667

Are Double Mutations Double Trouble?

Diane Fatkin1, Renee Johnson2.   

Abstract

Keywords:  Editorials; cardiomyopathy, hypertrophic; classification; heart failure; mutations

Mesh：

Year:  2017        PMID： 28420667     DOI： 10.1161/CIRCGENETICS.117.001749

Source DB:  PubMed          Journal:  Circ Cardiovasc Genet        ISSN： 1942-3268


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  2 in total

Review 1.  Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?

Authors:  Francesco Mazzarotto; Iacopo Olivotto; Beatrice Boschi; Francesca Girolami; Corrado Poggesi; Paul J R Barton; Roddy Walsh
Journal:  J Am Heart Assoc       Date:  2020-04-18       Impact factor: 5.501

2.  Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.

Authors:  Sajjad Karim; Samah Saharti; Nofe Alganmi; Zeenat Mirza; Ahmed Alfares; Shereen Turkistany; Manal Al-Attas; Hend Noureldin; Khadega Al Sakkaf; Heba Abusamra; Mohammed Al-Qahtani; Adel Abuzenadah
Journal:  Life (Basel)       Date:  2021-12-23
  2 in total

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