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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Publishing House
2018-02-01
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| Series: | Balkan Medical Journal |
| Subjects: | |
| Online Access: | http://balkanmedicaljournal.org/text.php?lang=en&id=1775 |