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Medical - Medical (general) / Rare diseases | | English term or phrase: Common Hispanic Mutation | Het gaat om een lange lijst van zeldzame ziekten en aandoeningen: een opsomming van ziekten dus, zonder uitleg. Het feit dat ze zeldzaam zijn, maakt de zoektocht naar de juiste Nederlandse term er niet makkelijker op. Er zijn er enkele waar ik echt geen vertaling voor terugvind.
Eén van de termen is "Common Hispanic Mutation". |
| Ellen SoorsKudoZ activityQuestions: 7 (none open) ( 1 without valid answers) ( 1 closed without grading) Answers: 0
| | Local time: 08:54
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| | Dutch translation:specifieke mutatie van het CCM1-gen | Explanation:
'CCM' staat voor: cerebrale caverneuze malformatie
common Hispanic mutation - (zie beneden) zou zijn: gemeenschappelijke mutatie bij Amerikaanse families van Latijns-Amerikaanse afkomst
Familial Cavernous Malformation
Familial cavernous malformations are caused by a single gene mutation in any one of at least three different genes. A mutation on any one of three genes (CCM1, CCM2, or CCM3) can cause the illness. If you have familial cavernous malformation, this illness may run in your family or you may be the first in your family to have the illness. You may have just one cavernous malformation, but are likely to have multiple cavernous malformations.
About 40% of familial cavernous malformation is caused my mutations in the CCM1 gene. Additionally, this is the gene responsible for most of the cases of familial multiple cavernous malformation in Hispanic families. In fact, most Hispanics with a specific CCM1 mutation (the Common Hispanic Mutation) are thought to share a common ancestor that can be traced back at least 17 generations.
http://www.angiomaalliance.org/pages.aspx?content=65 |
| Selected response from:
 Barend van Zadelhoff
Netherlands
Local time: 15:54
| Grading comment Bedankt voor je hulp!
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