Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region

BACKGROUND: Fanconi anemia is a rare autosomal recessive or X-linked disorder characterised by clinical and genetic heterogeneity. Most fanconi anemia patients harbour homozygous or double heterozygous mutations in the FANCA (60-65%), FANCC (10-15%), FANCG (~10%) or FANCD2 (3-6%) genes. We have alre...

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Detalles Bibliográficos
Autores principales: Dimishkovska, Marija, Kotori, Vjosa Mulliqi, Gucev, Zoran, Kocheva, Svetlana, Polenakovic, Momir, Plaseska-Karanfilska, Dijana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820438/
https://www.ncbi.nlm.nih.gov/pubmed/29400309
http://dx.doi.org/10.4274/balkanmedj.2017.0618

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820438/
https://www.ncbi.nlm.nih.gov/pubmed/29400309
http://dx.doi.org/10.4274/balkanmedj.2017.0618

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