Home > Term: haploinsufficiency
haploinsufficiency
The situation in which an individual who is heterozygous for a certain gene mutation or hemizygous at a particular locus, often due to a deletion of the corresponding allele, is clinically affected because a single copy of the normal gene is incapable of providing sufficient protein production as to assure normal function.
- Jenis Kata: noun
- Industri / Domain: Medis
- Kategori: Gen manusia
- Company: National Library of Medicine
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- Max Bryant
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