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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發表在:	Balkan Medical Journal
Main Authors:	Marija Dimishkovska, Vjosa Mulliqi Kotori, Zoran Gucev, Svetlana Kocheva, Momir Polenakovic, Dijana Plaseska-Karanfilska
格式:	Article
語言:	英语
出版:	Trakya University 2018-02-01
主題:	Fanconi anemia mutation Balkan region
在線閱讀:	http://balkanmedicaljournal.org/text.php?lang=en&id=1775