✦ LIBER ✦

Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy

✍ Scribed by Roselie J Jongbloed; Carlo L Marcelis; Pieter A Doevendans; Judith M Schmeitz-Mulkens; Willem G Van Dockum; Joep P Geraedts; Hubert J Smeets

Book ID: 119543546
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 145 KB
Volume: 41
Category: Article
ISSN: 1558-3597
DOI: 10.1016/s0735-1097(02)03005-x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical Features of Hypertrophic Cardio

Clinical Features of Hypertrophic Cardiomyopathy Caused by Mutation of a “Hot Spot” in the Alpha-Tropomyosin Gene

✍ Domenico A Coviello; Barry J Maron; Paolo Spirito; Hugh Watkins; Hans-Peter Vosb 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 430 KB

A Missense Mutation of Cardiac β-Myosin

A Missense Mutation of Cardiac β-Myosin Heavy Chain Gene Linked to Familial Hypertrophic Cardiomyopathy in Affected Japanese Families

✍ H. Harada; A. Kimura; H. Nishi; T. Sasazuki; H. Toshima 📂 Article 📅 1993 🏛 Elsevier Science 🌐 English ⚖ 532 KB

Clinical features of hypertrophic cardio

Clinical features of hypertrophic cardiomyopathy caused by an Arg278Cys missense mutation in the cardiac troponin T gene

✍ Artemisia Theopistou; Aristidis Anastasakis; Antigoni Miliou; Angelos Rigopoulos 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 205 KB

SPONGIOUS HYPERTROPHIC CARDIOMYOPATHY: A

SPONGIOUS HYPERTROPHIC CARDIOMYOPATHY: A NOVEL PHENOTYPE OF HYPERTROPHIC CARDIOMYOPATHY IN PATIENTS WITH MUTATIONS IN THE FOUR-AND-A-HALF LIM-DOMAIN 1 GENE

✍ Binder, Josepha; Weidemann, Frank; Beer, Meinrad; Machann, Wolfram; Niemann, Mar 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 90 KB

De novo missense mutation in a constitut

De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy

✍ H.J Durling; P Reilich; J Müller-Höcker; B Mendel; D Pongratz; C Wallgren-Petter 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 327 KB

Severe and Variable Clinical Expression

Severe and Variable Clinical Expression of a Homozygous Mutation in the Cardiac Troponin I Gene causing Hypertrophic Cardiomyopathy

✍ B. Gray; C. Medi; L. Yeates; C. Semsarian 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 87 KB