A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1

Annals of Pediatric Endocrinology and Metabolism - South Korea
doi 10.6065/apem.2019.24.4.248
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Korean Society of Pediatric Endocrinology

Related search

Rapid Whole Genome Sequencing Identifies a Novel AIRE Variant Associated With Autoimmune Polyendocrine Syndrome Type 1

Cold Spring Harbor molecular case studies
BiochemistryMolecular MedicineGenetics
2018English

A Novel AIRE Gene Mutation in a Patient With Autoimmune Polyendocrinopathy Candidiasis and Ectodermal Dystrophy Revealed by Alopecia Areata

JAAD Case Reports
Dermatology
2018English

Congenital Dyserythropoietic Anemia Type 1: A Case With Novel Compound Heterozygous Mutations in the C15orf41 Gene

American Journal of Hematology
Hematology
2018English

Precocious Presentation of Autoimmune Polyglandular Syndrome Type 2 Associated With an AIRE Mutation

Hormones
MedicineEndocrinologyMetabolismDiabetes
2014English

Compound Heterozygous Hemophilia a in a Female Patient and the Identification of a Novel Missense Mutation, p.Met1093Ile

Molecular Medicine Reports
OncologyGeneticsMolecular BiologyBiochemistryCancer ResearchMolecular Medicine
2013English

A Novel Compound Heterozygous Stxbp2 Mutation in a Case With Familial Hemophagocytic Lymphohistiocytosis

Turkish Journal of Pediatric Disease
2016English

Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient With Female External Genitalia

JCRPE Journal of Clinical Research in Pediatric Endocrinology
Child HealthEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2019English

A Compound Heterozygous Mutation of Lipase Maturation Factor 1 Is Responsible for Hypertriglyceridemia of a Patient

Journal of Atherosclerosis and Thrombosis
BiochemistryInternal MedicineCardiovascular MedicineCardiology
2019English

A Prenatally Diagnosed Case of Meckel-Gruber Syndrome With Novel Compound Heterozygous Pathogenic Variants in the TXNDC15 Gene

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy