Case Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencing

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Veröffentlicht in:	Frontiers in Pediatrics Jg. 11
Hauptverfasser:	Van Khanh Tran, Quang Minh Diep, Qiu Zilong, Le Thi Phuong, Hai Anh Tran, Nguyen Van Tung, Nguyen Thi Kim Lien, Nguyen Thi Xuan, Le Thi Ha, Thanh Van Ta, Thinh Huy Tran, Nguyen Huy Hoang
Format:	Journal Article
Sprache:	Japanisch
Veröffentlicht:	Frontiers Media SA 15.02.2023
Schlagworte:	ABCA12 Biochemistry, Genetics and Molecular Biology Biology Biology and Pathology of Keratins and Related Disorders Cell Biology Compound heterozygosity Congenital ichthyosis Dermatology Exome sequencing FOS: Biological sciences FOS: Clinical medicine Functions and Regulation of RNA Editing by ADARs Gene Genetics harlequin ichthyosis (HI) Histamine Ichthyosis Immunology Immunology and Microbiology Life Sciences Medicine Molecular Biology Mutation Pediatrics RJ1-570 Role of Mast Cells in Immunoregulation and Disease Sanger sequencing Vietnamese patient whole exome sequencing (WES)
ISSN:	2296-2360
Online-Zugang:	Volltext
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ISSN:	2296-2360
DOI:	10.60692/241xs-fa025