Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital...
Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis
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Publisher
Turkey: Hacettepe University Faculty of Medicine
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Language
English
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Publisher
Turkey: Hacettepe University Faculty of Medicine
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Contents
Dökmeci-Emre S, Taşkıran ZE, Yüzbaşıoğlu A, Önal G, Akarsu AN, Karaduman A, Özgüç M. Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis. Turk J Pediatr 2017; 59: 475-482. Autosomal recessive congenital ichthyosis (ARCI) is a group of inherited keratinization disorders that are characteriz...
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Full title
Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis
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TN_cdi_doaj_primary_oai_doaj_org_article_7cef93f76007490eba129dd67fa3871d
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7cef93f76007490eba129dd67fa3871d
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ISSN
0041-4301
E-ISSN
2791-6421
DOI
10.24953/turkjped.2017.04.017
