Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Yoseph, Boku"'
Autor:
Michael R, Erdos, Wayne A, Cabral, Urraca L, Tavarez, Kan, Cao, Jelena, Gvozdenovic-Jeremic, Narisu, Narisu, Patricia M, Zerfas, Stacy, Crumley, Yoseph, Boku, Gunnar, Hanson, Dan V, Mourich, Ryszard, Kole, Michael A, Eckhaus, Leslie B, Gordon, Francis S, Collins
Publikováno v:
Nature medicine. 27(3)
Hutchinson-Gilford progeria syndrome (HGPS) is a rare accelerated aging disorder characterized by premature death from myocardial infarction or stroke. It is caused by de novo single-nucleotide mutations in the LMNA gene that activate a cryptic splic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0400692d97ac2b90113adb4ea030b808
https://pubmed.ncbi.nlm.nih.gov/33772219
https://pubmed.ncbi.nlm.nih.gov/33772219
Publikováno v:
Seminars in respiratory and critical care medicine. 41(2)
Birt–Hogg–Dubé (BHD) syndrome is an autosomal dominant disorder caused by germline loss-of-function mutations in Folliculin gene (FLCN). BHD is characterized by lower lobe-predominant pulmonary cysts with risk of pneumothorax, benign skin tumors
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fbdc06a994ffba8e6a4df5f525ee0e4
https://pubmed.ncbi.nlm.nih.gov/32279295
https://pubmed.ncbi.nlm.nih.gov/32279295