Characterization of population genetic structure of hereditary transthyretin amyloidosis in Bulgaria.

Amyloid Neuropathies, Familial / genetics Bulgaria Founder Effect Humans Infant, Newborn Prealbumin / genetics
Founder effect population genetics transthyretin amyloidosis

Journal

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
ISSN: 1744-2818
Titre abrégé: Amyloid
Pays: England
ID NLM: 9433802

Informations de publication

Date de publication:
Dec 2021
Historique:
pubmed: 3 6 2021
medline: 18 1 2022
entrez: 2 6 2021
Statut: ppublish

Résumé

The hereditary transthyretin amyloidosis (ATTRv amyloidosis) is an autosomal dominant genetic disease characterized by amyloid formation in different tissues due to pathogenic variants in the

Identifiants

DOI: 10.1080/13506129.2021.1935230 PMID: 34076545
pubmed: 34076545
doi: 10.1080/13506129.2021.1935230
doi:

Substances chimiques

Prealbumin 0
TTR protein, human 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

219-225

Auteurs

Zornitsa Pavlova (Z)

Independent Medico-Diagnostic Laboratory Genome Center "Bulgaria", Sofia, Bulgaria.
Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria.
Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.

Stayko Sarafov (S)

Clinic of Nervous Diseases, UMBAL Aleksandrovska, Department of Neurology, Medical University Sofia, Sofia, Bulgaria.

Tihomir Todorov (T)

Independent Medico-Diagnostic Laboratory Genome Center "Bulgaria", Sofia, Bulgaria.
Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria.

Andrey Kirov (A)

Independent Medico-Diagnostic Laboratory Genome Center "Bulgaria", Sofia, Bulgaria.
Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria.
Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.

Teodora Chamova (T)

Clinic of Nervous Diseases, UMBAL Aleksandrovska, Department of Neurology, Medical University Sofia, Sofia, Bulgaria.

Mariana Gospodinova (M)

University Hospital "St. Ivan Rilski", Sofia, Bulgaria.

Ivailo Tournev (I)

Clinic of Nervous Diseases, UMBAL Aleksandrovska, Department of Neurology, Medical University Sofia, Sofia, Bulgaria.
Department for Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

Vanyo Mitev (V)

Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.

Albena Todorova (A)

Independent Medico-Diagnostic Laboratory Genome Center "Bulgaria", Sofia, Bulgaria.
Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria.
Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.

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Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles de l'homéostasie des protéines › Amyloïdose › Amyloïdose familiale › Neuropathies amyloïdes familiales › Characterization of population genetic...
questionsmedicales.fr › Régions géographiques › Europe › Europe de l'Est › Bulgarie › Characterization of population genetic...
questionsmedicales.fr › Phénomènes génétiques › Effet fondateur › Characterization of population genetic...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Characterization of population genetic...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Characterization of population genetic...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du sang › Sérumalbumine › Préalbumine › Characterization of population genetic...