FLNC-Associated Myofibrillar Myopathy
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Descrição
FLNC-Associated Myofibrillar Myopathy
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
Cureus, DES c.1360C>T: A Rare Desmin Variant Causing Early Distal Myopathy and Cardiomyopathy
JCM, Free Full-Text
Expanding the central nervous system disease spectrum associated with FLNC mutation - Previtali - 2019 - Muscle & Nerve - Wiley Online Library
Filamin C regulates skeletal muscle atrophy by stabilizing dishevelled-2 to inhibit autophagy and mitophagy - ScienceDirect
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
FLNC Antibody (NBP1-89300): Novus Biologicals
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy - ScienceDirect
Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy
PDF) A Mutation Update for the FLNC gene in Myopathies and Cardiomyopathies
Filamin C regulates skeletal muscle atrophy by stabilizing dishevelled-2 to inhibit autophagy and mitophagy - ScienceDirect
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC - Kölbel - 2020 - Human Mutation - Wiley Online Library
Force-Dependent Structural Changes of Filamin C Rod Domains Regulated by Filamin C Dimer
FLNC-Associated Myofibrillar Myopathy
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