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- Q852654 subject Q4925926.
- Q852654 abstract "Haploinsufficiency occurs when a diploid organism has only a single functional copy of a gene (with the other copy inactivated by mutation) and the single functional copy does not produce enough of a gene product (typically a protein) to bring about a wild-type condition, leading to an abnormal or diseased state. It is responsible for some but not all autosomal dominant disorders.Dominance or more specifically Complete Dominance is the opposite case: when a diploid organism has only a single functional copy of a gene (with the other copy inactivated by mutation) and the single functional copy produces enough of a gene product (typically a protein) to bring about a wild-type condition.The wild-type allele (i.e. version) of a haplosufficient gene is dominant over the mutant allele, since a heterozygote (with one mutant and one normal allele) displays the normal wild-type phenotype (i.e. is not diseased). On the other hand, the wild-type allele of a haploinsufficient gene is recessive to the mutant allele, since a heterozygote (with one mutant and one normal allele) displays the mutant (disease) phenotype. It is also possible that the heterozygote will display a third phenotype (such as diseased but of lesser severity) and in that case, the mutant allele is incompletely dominant to the recessive wild-type allele.".
- Q852654 wikiPageWikiLink Q104053.
- Q852654 wikiPageWikiLink Q1141499.
- Q852654 wikiPageWikiLink Q118406.
- Q852654 wikiPageWikiLink Q12078.
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- Q852654 wikiPageWikiLink Q13048280.
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- Q852654 wikiPageWikiLink Q14864092.
- Q852654 wikiPageWikiLink Q1501491.
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- Q852654 wikiPageWikiLink Q424689.
- Q852654 wikiPageWikiLink Q42918.
- Q852654 wikiPageWikiLink Q4925926.
- Q852654 wikiPageWikiLink Q531019.
- Q852654 wikiPageWikiLink Q558077.
- Q852654 wikiPageWikiLink Q6531938.
- Q852654 wikiPageWikiLink Q7049125.
- Q852654 wikiPageWikiLink Q7120423.
- Q852654 wikiPageWikiLink Q7187.
- Q852654 wikiPageWikiLink Q7239.
- Q852654 wikiPageWikiLink Q781618.
- Q852654 wikiPageWikiLink Q7882181.
- Q852654 wikiPageWikiLink Q8054.
- Q852654 wikiPageWikiLink Q80726.
- Q852654 wikiPageWikiLink Q847057.
- Q852654 wikiPageWikiLink Q954625.
- Q852654 comment "Haploinsufficiency occurs when a diploid organism has only a single functional copy of a gene (with the other copy inactivated by mutation) and the single functional copy does not produce enough of a gene product (typically a protein) to bring about a wild-type condition, leading to an abnormal or diseased state.".
- Q852654 label "Haploinsufficiency".