Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2018-105918
Abstract: Background Primary ciliary dyskinesia (PCD) is a motile ciliopathy, whose symptoms include airway infections, male infertility and situs inversus. Apart from the typical forms of PCD, rare syndromic PCD forms exist. Mutations of the X-linked… read more here.
Keywords: primary ciliary; ciliary dyskinesia; motile; mutations exons ... See more keywords
Mutations in Exons 8 and 11 of c-kit Gene in Canine Subcutaneous Mast Cell Tumors and Their Association with Cell Proliferation
Sign Up to like & getrecommendations! Published in 2022 at "Veterinary Sciences"
DOI: 10.3390/vetsci9090493
Abstract: Simple Summary Mast cell tumors (MCTs) are one of the most common skin tumors in dogs with variable clinical behavior ranging from benign lesions to those causing widespread metastasis. Prognostic factors have been intensively studied… read more here.
Keywords: mutations exons; cell; proliferation; mast ... See more keywords