Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis

Defects of the ankyrin-1 gene are the most common cause in humans of hereditary spherocytosis, an inherited anemia that affects patients of all ethnic groups. In some kindreds, linked –108/–153 nucleotide substitutions have been found in the upstream region of the ankyrin gene promoter that is activ...

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Главные авторы: Gallagher, Patrick G., Steiner, Laurie A., Liem, Robert I., Owen, Ashley N., Cline, Amanda P., Seidel, Nancy E., Garrett, Lisa J., Bodine, David M.
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Clinical Investigation 2010
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2993586/
https://ncbi.nlm.nih.gov/pubmed/21099109
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI42240
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