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Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

BACKGROUND: Ichthyoses are clinically characterized by scaling or hyperkeratosis of the skin or both. It can be an isolated condition limited to the skin or appear secondarily with involvement of other cutaneous or systemic abnormalities. METHODS: The present study investigated clinical and molecula...

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Dades bibliogràfiques
Publicat a:Int J Dermatol
Autors principals: Ullah, Rahim, Ansar, Muhammad, Durrani, Zaka Ullah, Lee, Kwanghyuk, Santos-Cortez, Regie Lyn P., Muhammad, Dost, Ali, Mahboob, Zia, Muhammad, Ayub, Muhammad, Khan, Suliman, Smith, Josh D., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael, Leal, Suzanne M., Ahmad, Wasim
Format: Artigo
Idioma:Inglês
Publicat: 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5090260/
https://ncbi.nlm.nih.gov/pubmed/26578203
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ijd.12950
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