Mutations in LONP1, a Mitochondrial Matrix Protease, Cause CODAS Syndrome

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dc.contributor.authorDikoglu, Esra
dc.contributor.authorAlfaiz, Ali
dc.contributor.authorGorna, Maria
dc.contributor.authorBertola, Deborah
dc.contributor.authorChae, Jong Hee
dc.contributor.authorCho, Tae\\-Joon
dc.contributor.authorDerbent, Murat
dc.contributor.authorAlanay, Yasemin
dc.contributor.authorGuran, Tulay
dc.contributor.authorKim, Ok\\-Hwa
dc.contributor.authorLlerenar, Jr., Juan C.
dc.contributor.authorYamamoto, Guillerme
dc.contributor.authorSuperti\\-Furga, Giulio
dc.contributor.authorReymond, Alexandre
dc.contributor.authorXenarios, Ioannis
dc.contributor.authorStevenson, Brian
dc.contributor.authorCampos\\-Xavier, Belinda
dc.contributor.authorBonafe, Luisa
dc.contributor.authorSuperti\\-Furga, Andrea
dc.contributor.authorUnger, Sheila
dc.date.accessioned2025-10-16T15:30:48Z
dc.date.issued2015
dc.identifier.doi10.1002/ajmg.a.37029
dc.identifier.otherWOS:000356676200059
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/8950
dc.publisherWILEY-BLACKWELL
dc.sourceAMERICAN JOURNAL OF MEDICAL GENETICS PART A
dc.subjectCODAS
dc.subjectcataract
dc.subjectskeletal dysplasia
dc.subjectmitochondrial protease
dc.titleMutations in LONP1, a Mitochondrial Matrix Protease, Cause CODAS Syndrome
dc.typeArticle

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