Literature DB >> 10980552

A new frameshift mutation at codon 466 (1397delA) within the LMNA gene.

J Genschel1, P Baier, S Kuepferling, M J Proepsting, C Buettner, R Ewert, R Hetzer, H Lochs, H H Schmidt.   

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Year:  2000        PMID： 10980552

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


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  2 in total

1.  Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

Authors:  Jop H van Berlo; Willem G de Voogt; Anneke J van der Kooi; J Peter van Tintelen; Gisèle Bonne; Rabah Ben Yaou; Denis Duboc; Tom Rossenbacker; Hein Heidbüchel; Marianne de Visser; Harry J G M Crijns; Yigal M Pinto
Journal:  J Mol Med (Berl)       Date:  2004-11-13       Impact factor: 4.599

2.  Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

Authors:  P Sébillon; C Bouchier; L D Bidot; G Bonne; K Ahamed; P Charron; V Drouin-Garraud; A Millaire; G Desrumeaux; A Benaïche; J-C Charniot; K Schwartz; E Villard; M Komajda
Journal:  J Med Genet       Date:  2003-08       Impact factor: 6.318
  2 in total

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