A novel nonsense variant in RTEL1 gene contributes to familial pulmonary fibrosis, emphasizing telomere-related gene mutations in interstitial lung disease. Genetic testing is essential for diagnosing ...
(from left) Dr. Buket Basmanav, Nicole Cesarato, Xing Xiong, Prof. Regina Betz and Yasmina Gossmann find causative mutations in the keratin 31 gene for the dominantly-inherited form of monilethrix.
In a recent perspective published in the journal Cell Death and Differentiation, researchers in France, Germany, and Sweden discussed the unique mutational spectrum of the transformation-related ...
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