The Turkish Journal of Pediatrics 2017 , Vol 59 , Num 4
Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis
Serap Dökmeci-Emre 1 ,Zihni Ekim Taşkıran 2 ,Ayşe Yüzbaşıoğlu 1-3 ,Gizem Önal 1 ,Ayşe Nurten Akarsu 2 ,Ayşen Karaduman 4 ,Meral Özgüç 1-3
1 Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey
2 Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey
3 Department of Medical Biology and Center for Biobanking and Genomics, Hacettepe University Faculty of Medicine, Ankara, Turkey
4 Deparment of Dermatology and Venereology, Hacettepe University Faculty of Medicine, Ankara, Turkey
DOI : 10.24953/turkjped.2017.04.017 Keywords :
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