Article ; Online: Novel Founder Mutation in
2018 Volume 35, Issue 1, Page(s) 108–111
Abstract: 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 : Case report: The novel : ... ...
Abstract | 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 Case report: The novel Conclusion: The finding of the |
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MeSH term(s) | Balkan Peninsula ; Child ; Child, Preschool ; DNA Mutational Analysis ; DNA-Binding Proteins ; Fanconi Anemia/genetics ; Fanconi Anemia Complementation Group A Protein/genetics ; Female ; Founder Effect ; Homozygote ; Humans ; Kosovo ; Macedonia (Republic) ; Mutation ; Roma/genetics |
Chemical Substances | DNA-Binding Proteins ; FANCA protein, human ; Fanconi Anemia Complementation Group A Protein |
Language | English |
Publishing date | 2018-02-05 |
Publishing country | Turkey |
Document type | Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't |
ZDB-ID | 2612982-6 |
ISSN | 2146-3131 ; 2146-3123 |
ISSN (online) | 2146-3131 |
ISSN | 2146-3123 |
DOI | 10.4274/balkanmedj.2017.0618 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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