المؤلفون: Emanuele Monda, Michele Lioncino, Martina Caiazza, Vincenzo Simonelli, Claudia Nesti, Marta Rubino, Alessia Perna, Alfredo Mauriello, Alberta Budillon, Vincenzo Pota, Giorgia Bruno, Antonio Varone, Vincenzo Nigro, Filippo Maria Santorelli, Giuseppe Pacileo, Maria Giovanna Russo, Giulia Frisso, Simone Sampaolo, Giuseppe Limongelli

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 10, p 9108 (2023)

مصطلحات موضوعية: cardiomyopathy, neuromuscular disease, genetic testing, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/24/10/9108Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/966a41b1a41341a695c79e43622eec5bTest

المؤلفون: Teresa Esposito, Giuseppe Di Iorio, Simone Sampaolo, Daria Diodato, Filomena Napolitano, Olimpia Farina, Giuseppe Pacileo, Giuseppe Limongelli, Fernando Gianfrancesco, Daniela Formicola, Antonio Varone

المساهمون: Esposito, T, Sampaolo, Simone, Limongelli, Giuseppe, Varone, A, Formicola, D, Diodato, D, Farina, O, Napolitano, F, Pacileo, G, Gianfrancesco, F, DI IORIO, Giuseppe

المصدر: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases (2013). doi:10.1186/1750-1172-8-91
info:cnr-pdr/source/autori:Esposito T, Sampaolo S, Limongelli G, Varone A, Formicola D, Diodato D, Farina O, Napolitano F, Pacileo G, Gianfrancesco F, Di Iorio G./titolo:Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy./doi:10.1186%2F1750-1172-8-91/rivista:Orphanet journal of rare diseases/anno:2013/pagina_da:/pagina_a:/intervallo_pagine:/volume

مصطلحات موضوعية: Proband, Male, Adolescent, Myotonia Congenita, Heart Ventricles, Molecular Sequence Data, Cardiomyopathy, Mutation, Missense, Biology, Young Adult, Antigens, CD, medicine, Missense mutation, Humans, Exome, Genetics(clinical), Pharmacology (medical), Amino Acid Sequence, Left ventricular noncompact cardiomyopathy, Child, Letter to the Editor, Genetics (clinical), Genetics, Medicine(all), Myosin Heavy Chains, Congenital type fiber disproportion, Research, Whole exome sequencing, General Medicine, Sequence Analysis, DNA, Congenital fiber type disproportion, Middle Aged, medicine.disease, Phenotype, Digenic inheritance, Congenital myopathy, Pedigree, Integrin alpha 7 (ITGA7), Italy, Myosin heavy chain 7B (MYH7B), Child, Preschool, Female, ITGA7, Cardiomyopathies, Cardiac Myosins, Integrin alpha Chains

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d83811c1a12d48983bdfea98925b460fTest
http://hdl.handle.net/11591/182981Test