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Bloom syndrome

1

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Geneetika terminibaas

ID 1152177 Last modified 22.12.2025
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  • harvaesinev autosoomne retsessiivne haigus
Bloomi sündroom
Good to know
  • Bloomi sündroomi põhjuseks on mutatsioon BLM-geeni s(toodab valku BLM-helikaas). Sündroomi iseloomustab lühike kasv, genoomne ebastabiilsus ja kasvajate sage esinemine ning immuunpuudulikkus.
Bloom syndrome

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