Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

Trichothiodystrophy (TTD) is a rare hereditary neurodevelopmental disorder defined by sulfur-deficient brittle hair and nails and scaly skin, but with otherwise remarkably variable clinical features. The photosensitive TTD (PS-TTD) forms exhibits in addition to progressive neuropathy and other featu...

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Detalles Bibliográficos
Autores principales: Botta, Elena, Theil, Arjan F, Raams, Anja, Caligiuri, Giuseppina, Giachetti, Sarah, Bione, Silvia, Accadia, Maria, Lombardi, Anita, Smith, Desiree E C, Mendes, Marisa I, Swagemakers, Sigrid M A, van der Spek, Peter J, Salomons, Gajja S, Hoeijmakers, Jan H J, Yesodharan, Dhanya, Nampoothiri, Sheela, Ogi, Tomoo, Lehmann, Alan R, Orioli, Donata, Vermeulen, Wim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411986/
https://www.ncbi.nlm.nih.gov/pubmed/33909043
http://dx.doi.org/10.1093/hmg/ddab123

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