A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities
| Autor: | Mohammad Miryounesi, Majid Fardaei, Soudeh Ghafouri-Fard |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Genetics chemistry.chemical_classification congenital hereditary and neonatal diseases and abnormalities Mutation Xeroderma pigmentosum integumentary system Neurodegeneration nutritional and metabolic diseases General Medicine Biology medicine.disease_cause medicine.disease Frameshift mutation 03 medical and health sciences 030104 developmental biology chemistry Female patient Cancer research medicine Nucleotide Xpa gene skin and connective tissue diseases Gene |
| Zdroj: | Gene. 576:379-380 |
| ISSN: | 0378-1119 |
| DOI: | 10.1016/j.gene.2015.08.039 |
| Popis: | • We performed mutational analysis of Xeroderma pigmentosum associated genes in an 8-year female patient. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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