Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis

التفاصيل البيبلوغرافية
العنوان: Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis
المؤلفون: Thomas, A C, Sinclair, C, Mahmud, N, Cullup, T, Mellerio, J E, Harper, J, Dale, B A, Turc-Carel, C, Hohl, D, McGrath, J A, Vahlquist, Anders, Hellström-Pigg, Maritta, Ganemo, A, Metcalfe, K, Mein, C A, O'Toole, E A, Kelsell, D P
المصدر: British Journal of Dermatology. 158(3):611-613
مصطلحات موضوعية: ABCA12, ethnic mutations, harlequin ichthyosis, screening, MEDICINE, MEDICIN
وصف الملف: print
URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-17035
قاعدة البيانات: SwePub
الوصف
تدمد:00070963
13652133
DOI:10.1111/j.1365-2133.2007.08277.x