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Published in 2022 at "Experimental Dermatology"
DOI: 10.1111/exd.14537
Abstract: Mutations in the human FAM111B gene are associated with a rare, hereditary multi‐systemic fibrosing disease, POIKTMP. To date, there are ten POIKTMP‐associated FAM111B gene mutations reported in thirty‐six patients from five families globally. To investigate…
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Keywords:
mutations within;
poiktmp;
fam111b gene;
protease domain ... See more keywords