Literature DB >> 7581410

Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.

J C Moolman1, P A Brink, V A Corfield.   

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Year:  1995        PMID： 7581410     DOI： 10.1002/humu.1380060219

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  7 in total

Review 1.  Candidate genes and confirmed genetic polymorphisms associated with cardiovascular diseases: a tabular assessment.

Authors:  Z Tang; R P Tracy
Journal:  J Thromb Thrombolysis       Date:  2001-02       Impact factor: 2.300

Review 2.  Genetics of inherited cardiomyopathies in Africa.

Authors:  Gasnat Shaboodien; Timothy F Spracklen; Stephen Kamuli; Polycarp Ndibangwi; Carla Van Niekerk; Ntobeko A B Ntusi
Journal:  Cardiovasc Diagn Ther       Date:  2020-04

3.  Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.

Authors:  Pradeep Natarajan; Nina B Gold; Alexander G Bick; Heather McLaughlin; Peter Kraft; Heidi L Rehm; Gina M Peloso; James G Wilson; Adolfo Correa; Jonathan G Seidman; Christine E Seidman; Sekar Kathiresan; Robert C Green
Journal:  Sci Transl Med       Date:  2016-11-09       Impact factor: 17.956

4.  The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

Authors:  J C Moolman-Smook; W J De Lange; E C Bruwer; P A Brink; V A Corfield
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

5.  Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Authors:  Heba Sh Kassem; Remon S Azer; Maha Saber-Ayad; Maha S Ayad; Sarah Moharem-Elgamal; Gehan Magdy; Ahmed Elguindy; Franco Cecchi; Iacopo Olivotto; Magdi H Yacoub
Journal:  J Cardiovasc Transl Res       Date:  2012-12-12       Impact factor: 4.132

6.  Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.

Authors:  Ntobeko A Ntusi; Gasnat Shaboodien; Motasim Badri; Freedom Gumedze; Bongani M Mayosi
Journal:  Cardiovasc J Afr       Date:  2016 May/Jun       Impact factor: 1.167

7.  A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity.

Authors:  Paal Skytt Andersen; Paula Louise Hedley; Stephen P Page; Petros Syrris; Johanna Catharina Moolman-Smook; William John McKenna; Perry Mark Elliott; Michael Christiansen
Journal:  Biochem Res Int       Date:  2012-04-11
  7 in total

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