Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece

Alport syndrome (AS) is the most frequent monogenic inherited glomerulopathy and is also genetically and clinically heterogeneous. It is caused by semi-dominant pathogenic variants in the X-linked COL4A5 (NM_000495.5) gene or recessive variants in the COL4A3/COL4A4 (NM_000091.4/NM_000092.4) genes. T...

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Detalles Bibliográficos
Autores principales: Hadjipanagi, Despina, Papagregoriou, Gregory, Koutsofti, Constantina, Polydorou, Christiana, Alivanis, Polichronis, Andrikos, Aimilios, Christodoulidou, Stalo, Dardamanis, Manthos, Diamantopoulos, Athanasios A., Fountoglou, Anastasios, Frangou, Eleni, Georgaki, Eleni, Giannikouris, Ioannis, Gkinis, Velissarios, Goudas, Pavlos C., Kalaitzidis, Rigas G., Kaperonis, Nikolaos, Koutroumpas, Georgios, Makrydimas, George, Myserlis, Grigorios, Mitsioni, Andromachi, Paliouras, Christos, Papachristou, Fotios, Papadopoulou, Dorothea, Papagalanis, Nikolaos, Papagianni, Aikaterini, Perysinaki, Garyfalia, Siomou, Ekaterini, Sombolos, Konstantinos, Tzanakis, Ioannis, Vergoulas, Georgios V., Printza, Nicoletta, Deltas, Constantinos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778032/
https://www.ncbi.nlm.nih.gov/pubmed/36553470
http://dx.doi.org/10.3390/genes13122203

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