Associated Papers
SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.
Cindrić S et al.
American Journal of Respiratory Cell and Molecular Biology, 2020
Ethnic specific background of mutations in Bulgarian patients with Wilson disease.
Todorov T et al.
Genetic Counseling (geneva, Switzerland), 2007
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
Ferenci P
Human Genetics, 2006
Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.
Todorov T et al.
Clinical Genetics, 2005
Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.
Loudianos G et al.
Genetic Testing, 2003
Familial gene analysis for Wilson disease from north-west Indian patients.
Kumar S et al.
Annals of Human Biology, 0
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