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https://www.cleverjournal.org/thymine-cytosine-missense-mutation-at-nucleotide-3538-in-fibrillin-1-gene-in-marfan-syndrome-a-case-report-of-an-aggressive-phenotype/
Thymine > cytosine missense mutation at nucleotide 3538 in fibrillin-1 gene in Marfan syndrome: A...
missense mutation
thymine
cytosine
nucleotide
fibrillin
https://pubmed.ncbi.nlm.nih.gov/11508439/?dopt=Abstract
Abnormalities in fibrillin 1-containing microfibrils in dermal fibroblast cultures from patients...
Although SSc fibroblasts assemble microfibrils, these microfibrils are unstable, suggesting that an inherent defect of fibrillin 1-containing microfibrils may...
dermal fibroblast
abnormalities
fibrillin
containing
microfibrils