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Publications by J. Marvit

GT to AT Transition at a Splice Donor Site Causes Skipping of the Preceding Exon in Phenylketonuria

Nucleic Acids Research

Genetics

1987

English

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A T+6 to C+6 Mutation in the Donor Splice Site of COL3A1 IVS7 Causes Exon Skipping and Results in Ehlers-Danlos Syndrome Type IV.

Journal of Medical Genetics

Genetics

1993

English

Ab Initio Prediction of Mutation-Induced Cryptic Splice-Site Activation and Exon Skipping

European Journal of Human Genetics

Genetics

2009

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

A Mutation Hotspot at the P14ARF Splice Site

English

A Novel Splice-Site Mutation on the MLC1 Gene Leading to Exon 9 Skipping and Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Turkish Patient

Balkan Journal of Medical Genetics

Genetics

2019

English

Autoregulation of the Human Splice Factor Kinase CLK1 Through Exon Skipping and Intron Retention

English

A Novel Type 2A Von Willebrand Factor Mutation Located at the Last Nucleotide of Exon 26 (3538G>A) Causes Skipping of 2 Nonadjacent Exons

English

Exon, Intron and Splice Site Locations in the Spliceosomal B Complex

English

Exon-Skipping Splice Variants of Excitatory Amino Acid Transporter-2 (EAAT2) Form Heteromeric Complexes With Full-Length EAAT2

Journal of Biological Chemistry

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by J. Marvit

GT to AT Transition at a Splice Donor Site Causes Skipping of the Preceding Exon in Phenylketonuria

Related publications

A T+6 to C+6 Mutation in the Donor Splice Site of COL3A1 IVS7 Causes Exon Skipping and Results in Ehlers-Danlos Syndrome Type IV.

Ab Initio Prediction of Mutation-Induced Cryptic Splice-Site Activation and Exon Skipping

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.

A Mutation Hotspot at the P14ARF Splice Site

A Novel Splice-Site Mutation on the MLC1 Gene Leading to Exon 9 Skipping and Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Turkish Patient

Autoregulation of the Human Splice Factor Kinase CLK1 Through Exon Skipping and Intron Retention

A Novel Type 2A Von Willebrand Factor Mutation Located at the Last Nucleotide of Exon 26 (3538G>A) Causes Skipping of 2 Nonadjacent Exons

Exon, Intron and Splice Site Locations in the Spliceosomal B Complex

Exon-Skipping Splice Variants of Excitatory Amino Acid Transporter-2 (EAAT2) Form Heteromeric Complexes With Full-Length EAAT2