Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis.

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Dökmeci-Emre S., TAŞKıRAN Z. E., YÜZBAŞıOĞLU A., ÖNAL G., AKARSU A. N., KARADUMAN A., ...More

The Turkish journal of pediatrics, vol.59, pp.475-482, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59
  • Publication Date: 2017
  • Doi Number: 10.24953/turkjped.2017.04.017
  • Journal Name: The Turkish journal of pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.475-482
  • Keywords: autosomal recessive congenital ichthyosis (ARCI), PNPLA1, mutation, LAMELLAR ICHTHYOSIS, GENETIC-HETEROGENEITY, REVEALS, ALOX12B, VARIANT, HUMANS, DOMAIN, FORM
  • Hacettepe University Affiliated: Yes