Identification of two novel pnpla1 mutations in turkish families with autosomal recessive congenital ichthyosis-Reference-Cited by-同舟云学术

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Identification of two novel pnpla1 mutations in turkish families with autosomal recessive congenital ichthyosis

Published:2017 Issue:4 Volume:59 Page:475
ISSN:0041-4301
Container-title:The Turkish Journal of Pediatrics
language:
Short-container-title:TurkJPediatr

Author:

Dökmeci-Emre Serap,Taşkıran Zihni Ekim,Yüzbaşıoğlu Ayşe,Önal Gizem,Akarsu Ayşe Nurten,Karaduman Ayşen,Özgüç Meral

Publisher

The Turkish Journal of Pediatrics

Subject

Pediatrics, Perinatology, and Child Health

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis;Dermatology and Therapy;2024-08-07

2. PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis;Metabolites;2022-07-26

3. Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance;Molecular Syndromology;2021

4. Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis;Molecular Genetics & Genomic Medicine;2019-12-13

5. Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing;Genetic Testing and Molecular Biomarkers;2019-06

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