Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.

Autor: Alban JJ; Fundación Valle del Lili, Center of Clinical Research, Cali, 760026, Colombia., Arango-Ramirez A; Fundación Valle del Lili, Center of Clinical Research, Cali, 760026, Colombia., Olave-Rodriguez JA; Faculty of Health Sciences, Icesi University, Cali, 760031, Colombia., Nastasi-Catanese JA; Faculty of Health Sciences, Icesi University, Cali, 760031, Colombia.; Fundación Valle del Lili, Department of Human Genetics, Cali, 760026, Colombia., Rodriguez LX; Faculty of Health Sciences, Icesi University, Cali, 760031, Colombia; lisa.rodriguez@fvl.org.co.; Fundación Valle del Lili, Department of Human Genetics, Cali, 760026, Colombia.

Publikováno v: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2024 Jan 10; Vol. 9 (4). Date of Electronic Publication: 2024 Jan 10 (Print Publication: 2023).