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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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Détails bibliographiques
Publié dans:Int J Dermatol
Auteurs principaux: 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
Langue:Inglês
Publié: 2015
Sujets:
Accès en ligne: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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