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SHM may be normal or defective, depending on the molecular defect in question.
Science 290, 2298 2301 (2000).Elucidation of the molecular defect in NPC type 2 disease.
Stanford investigators have zeroed in on a molecular defect in macrophages' metabolic process that drives both disorders.
Reverting skin cells from people with a premature aging disease back to a more embryonic state appears to overcome the molecular defect in these cells.
Researchers have identified genes that are linked to the underlying molecular defect in people with IgA nephropathy, an autoimmune kidney disease.
Hence this study investigated the molecular defect in the enamelin gene in a patient with the clinical features of AI.
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A drug designed to fix the molecular defects in fragile X helps some patients.
"The focus has been on molecular defects in disease, but to really understand them you've got to see them in the cell," she says.
Pathogenetically, PHHI may result from different molecular defects in the regulation of β-cell mediated insulin release with diffuse or focal β-cell mediatedsinsulin5).
To characterize the molecular defects in two x-linked retinitis pigmentosa (RP) families.
Activating point mutations in the phosphatidylinositol-3-kinase catalytic subunit (PIK3CA) are among the most common molecular defects in invasive breast cancer.
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