| Autor: |
Masahisa Kobayashi, Toya Ohashi, Sayoko Iizuka, Eiko Kaneshiro, Takashi Higuchi, Yoshikatsu Eto, Hiroyuki Ida |
| Jazyk: |
angličtina |
| Rok vydání: |
2014 |
| Předmět: |
|
| Zdroj: |
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 283-287 (2014) |
| Druh dokumentu: |
article |
| ISSN: |
2214-4269 |
| DOI: |
10.1016/j.ymgmr.2014.07.001 |
| Popis: |
We examined alpha-galactosidase A (GLA) gene mutations in 74 Japanese families with Fabry disease (FD) to determine the frequency of de novo mutations. In 5 of 74 families (6.8%), the probands had no positive family histories and were diagnosed as de novo because their parents had no mutations in GLA gene. The parents of Fabry patients do not necessarily have mutations in GLA gene which is an important consideration in genetic counseling for FD. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
