Associated Papers
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
39575713 (PubMed )
Supplement: JAH3-13-e033770-s001.pdf
Phenotypic characterization of c.379A > G GJB1 mutation in a Charcot-Marie-Tooth female patient.
Merico E et al.
Acta Neurologica Belgica, 2023
Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients.
Milley GM et al.
Neuromuscular Disorders : Nmd, 2018
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