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

Cold Spring Harbor molecular case studies - United States
doi 10.1101/mcs.a002485
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Cold Spring Harbor Laboratory

Related search

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

Annals of Pediatric Endocrinology and Metabolism
Child HealthEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2019English

Genome-Wide Association Study Identifies Variants Associated With Autoimmune Hepatitis Type 1

Gastroenterology
HepatologyGastroenterology
2014English

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

Hormones
MedicineEndocrinologyMetabolismDiabetes
2014English

Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia

Genome Biology
2011English

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation inBBS2Gene in a Family With Bardet-Biedl Syndrome

BioMed Research International
ImmunologyMolecular BiologyBiochemistryMicrobiology MedicineGenetics
2015English

[PROVISIONAL] Whole Exome Sequencing Identifies a Novel Variant in an Apoptosis-Inducing Factor Gene Associated With X-Linked Recessive Hearing Loss in a Chinese Family

Genetics and Molecular Biology
GeneticsMolecular Biology
2019English

Whole-Genome Linkage Scan Combined With Exome Sequencing Identifies Novel Candidate Genes for Carotid Intima-Media Thickness

Frontiers in Genetics
GeneticsMolecular Medicine
2018English

Comparison of Three Variant Callers for Human Whole Genome Sequencing

Scientific Reports
Multidisciplinary
2018English

Whole‑exome Sequencing Identifies a Novel Mutation (R367G) in SCN5A to Be Associated With Familial Cardiac Conduction Disease

Molecular Medicine Reports
OncologyGeneticsMolecular BiologyBiochemistryCancer ResearchMolecular Medicine
2017English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy