Somatic Alterations Compromised Molecular Diagnosis of DOCK8 Hyper-IgE Syndrome Caused by a Novel Intronic Splice Site Mutation

Scientific Reports - United Kingdom
doi 10.1038/s41598-018-34953-z
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Springer Science and Business Media LLC

Related search

955 First-Ever Case of Cerebral Toxoplasmosis in Hyper IGE Syndrome With DOCK8 Mutation

Archives of Disease in Childhood
Child HealthPediatricsPerinatology
2012English

Intermediate Phenotypes in Patients With Autosomal Dominant Hyper-IgE Syndrome Caused by Somatic Mosaicism

Journal of Allergy and Clinical Immunology
AllergyImmunology
2013English

OC1 Clinical and Molecular Features of Twenty Children With Hyper-IgE Syndrome Caused by Stat3 Gene Mutation in Mainland China

2019English

Novel Hereditary Spherocytosis-Associated Splice Site Mutation in the ANK1 Gene Caused by Parental Gonosomal Mosaicism

Haematologica
Hematology
2018English

Novel Splice Site IDUA Gene Mutation in Tunisian Pedigrees With Hurler Syndrome

Diagnostic Pathology
Forensic MedicineMedicinePathologyHistology
2018English

A Novel Aberrant Splice Site Mutation in the APC Gene

Journal of Medical Genetics
Genetics
2002English

Janus Kinase 3 Deficiency Caused by a Homozygous Synonymous Exonic Mutation That Creates a Dominant Splice Site

Journal of Allergy and Clinical Immunology
AllergyImmunology
2017English

A Family With Danon Disease Caused by a Splice Site Mutation in LAMP2 That Generates a Truncated Protein

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

Intronic PRRT2 Mutation Generates Novel Splice Acceptor Site and Causes Paroxysmal Kinesigenic Dyskinesia With Infantile Convulsions (PKD/IC) in a Three Generation Family

BMC Medical Genetics
Genetics
2016English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy