FLNC-Associated Myofibrillar Myopathy
Por um escritor misterioso
Descrição
Myofibrillar myopathy: MedlinePlus Genetics
Analysis of a putative second dimerization region in FLNc. a
FLNC and MYLK2 gene mutations in a Chinese family with different phenotypes of cardiomyopathy
PDF) P.82First clinical and neuropathological description of a myofibrillar myopathy with congenital onset based on a homozygous recessive FLNC mutation
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
IJMS, Free Full-Text
Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation, Acta Neuropathologica Communications
FLNC-Associated Myofibrillar Myopathy
Clinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese - Lee - 2020 - Clinical Genetics - Wiley Online Library
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