Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment

Rare Diseases (RD) do not have an exact definition since local authorities define the criteria in different ways, from fewer than 5 people in 10,000, according to the European Union, to the standard world average of 40 cases per 100,000 people [...].

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Bibliographische Detailangaben
Veröffentlicht in:	International journal of molecular sciences 2023-05, Vol.24 (10), p.9064
Hauptverfasser:	Larizza, Lidia, Cubellis, Maria Vittoria
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomarkers Cell cycle Enzymes Genes Genomes Humans Muscular dystrophy Mutation n/a Pathogenesis Patients Precision Medicine Proteins Rare diseases Rare Diseases - diagnosis Rare Diseases - genetics Rare Diseases - therapy Stem cells Transcription factors
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Beschreibung
Zusammenfassung:	Rare Diseases (RD) do not have an exact definition since local authorities define the criteria in different ways, from fewer than 5 people in 10,000, according to the European Union, to the standard world average of 40 cases per 100,000 people [...].
ISSN:	1422-0067 1661-6596 1422-0067
DOI:	10.3390/ijms24109064