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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Int J Dermatol
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2015
Gaiak:
Sarrera elektronikoa: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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