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Publications by Brittney Cangemi

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

Journal of Allergy and Clinical Immunology

Allergy

Immunology

2017

English

Related publications

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

Molecular genetics & genomic medicine

Genetics

Molecular Biology

2019

English

Truncated Type XVII Collagen Expression in a Patient With Non-Herlitz Junctional Epidermolysis Bullosa Caused by a Homozygous Splice-Site Mutation

Laboratory Investigation

English

PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus

Frontiers in Genetics

Genetics

Molecular Medicine

2020

English

Identification of a Novel Exonic Mutation at -13 From 5' Splice Site Causing Exon Skipping in a Girl With Mitochondrial Acetoacetyl-Coenzyme a Thiolase Deficiency.

Journal of Clinical Investigation

Medicine

1994

English

Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase

American Journal of Human Genetics

Genetics

2000

English

A Synonymous Mutation in SPINK5 Exon 11 Causes Netherton Syndrome by Altering Exonic Splicing Regulatory Elements

Journal of Human Genetics

Genetics

2012

English

Multisystem Fatal Infantile Disease Caused by a Novel Homozygous EARS2 Mutation

English

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

Scientific Reports

Multidisciplinary

2018

English

A Mutation Hotspot at the P14ARF Splice Site

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Brittney Cangemi

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

Related publications

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

Truncated Type XVII Collagen Expression in a Patient With Non-Herlitz Junctional Epidermolysis Bullosa Caused by a Homozygous Splice-Site Mutation

PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus

Identification of a Novel Exonic Mutation at -13 From 5' Splice Site Causing Exon Skipping in a Girl With Mitochondrial Acetoacetyl-Coenzyme a Thiolase Deficiency.

Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase

A Synonymous Mutation in SPINK5 Exon 11 Causes Netherton Syndrome by Altering Exonic Splicing Regulatory Elements

Multisystem Fatal Infantile Disease Caused by a Novel Homozygous EARS2 Mutation

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

A Mutation Hotspot at the P14ARF Splice Site