| Autor: |
Aranka, László, László, Török, Sarolta, Raffai, Eva, Török, Eva, Sallay, Emoke, Endreffy, László, Morvai, J K Ploos, van Amstel |
| Rok vydání: |
2012 |
| Předmět: |
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| Zdroj: |
Ideggyogyaszati szemle. 65(1-2) |
| ISSN: |
0019-1442 |
| Popis: |
AIM was to detect the mutations of alpha-galactosidase A gene in two Hungarian Fabry patients.Mutation analysis was performed by polymerase chain reaction (PCR) sequencing of the seven exons and adjacent introns of the alpha-galactosidase A gene.Case 1. (19 y. male patient) Mutation analysis was done for alpha-galactosidase gene, a missence mutation has been identified in the 5th exon, the aspartic acid at codon 266 has been substituted by a tyrosine (notation D266Y) due to a G-T transversion at position 10287 of the alpha GAL-A gene. Case 2. (28 y. male Fabry patient) The GAL-A mutation has been proven to be R220X mutation in exon 5 of the alpha-galactosidase A gene. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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