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

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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Bibliographic Details
Main Authors: Marija Dimishkovska, Vjosa Mulliqi Kotori, Zoran Gucev, Svetlana Kocheva, Momir Polenakovic, Dijana Plaseska-Karanfilska
Format: Article
Language:English
Published: Galenos Publishing House 2018-02-01
Series:Balkan Medical Journal
Subjects:
Fanconi anemia
mutation
Balkan region
Online Access:http://balkanmedicaljournal.org/text.php?lang=en&id=1775

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