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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...
Autores principales: | Dimishkovska, Marija, Kotori, Vjosa Mulliqi, Gucev, Zoran, Kocheva, Svetlana, Polenakovic, Momir, Plaseska-Karanfilska, Dijana |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2018
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Materias: | |
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 |
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