DNA sequencing errors in molecular diagnostics of filamin myopathy
Author:
Publisher
Walter de Gruyter GmbH
Subject
Biochemistry (medical),Clinical Biochemistry,General Medicine
Link
https://www.degruyter.com/document/doi/10.1515/CCLM.2010.272/pdf
Reference21 articles.
1. Myofibrillar myopathies
2. Indications for a Novel Muscular Dystrophy Pathway
3. FATZ, a Filamin-, Actinin-, and Telethonin-binding Protein of the Z-disc of Skeletal Muscle
4. The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins
5. Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP
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