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Bloom syndrome is an autosomal recessive disorder, caused by mutations in the maternally- and paternally-derived copies of the gene BLM. [13] As in other autosomal recessive conditions, the parents of an individual with Bloom syndrome do not necessarily exhibit any features of the syndrome.
Rothmund-Thomson syndrome and xeroderma pigmentosum display symptoms dominated by vulnerability to cancer, whereas progeria and Werner syndrome show the most features of "accelerated aging". Hereditary nonpolyposis colorectal cancer (HNPCC) is very often caused by a defective MSH2 gene leading to defective mismatch repair , but displays no ...
Blepharophimosis, ptosis, epicanthus inversus syndrome; Blind loop syndrome; Bloom syndrome; Blount's disease; Blue baby syndrome; Blue diaper syndrome; Blue rubber bleb nevus syndrome; Blue toe syndrome; Bobble-head doll syndrome; Body fat redistribution syndrome; Boerhaave syndrome; Bogart–Bacall syndrome; Bohring–Opitz syndrome; Bonnet ...
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Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome. [ 5 ] The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities.
Blum originated the term "reward deficiency syndrome". There is no consensus among addiction researchers that empirical evidence exists to justify such a concept. [ 1 ] He holds multiple patents relating to genetic testing and treatment for the supposed syndrome that have been licensed through various different corporations.
Bloom, an audio erotica platform, debuts Bloom Chat, an interactive experience where users can "chat" with characters.
NBS is caused by a mutation in the NBS1 gene, located at human chromosome 8q21. [9] [10] The disease is inherited in an autosomal recessive manner. [2]This means the defective gene responsible for the disorder is located on an autosome (chromosome 8 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.