Intragenic Deletion as a Novel Type of Mutation in Wolman Disease

Molecular Genetics and Metabolism - United States
doi 10.1016/j.ymgme.2011.09.006
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Elsevier BV

Related search

Intragenic Suppression of a Deletion Mutation of the Nonstructural Gene of an Influenza a Virus.

Journal of Virology
Insect ScienceImmunologyMicrobiologyVirology
1991English

A Novel p.Val244Leu Mutation in MFN2 Leads to Charcot-Marie-Tooth Disease Type 2

Italian Journal of Pediatrics
Child HealthPediatricsPerinatology
2016English

Homozygous Intragenic Deletion of Type I Hexokinase Gene Causes Lethal Hemolytic Anemia of the Affected Fetus

Blood
BiochemistryImmunologyCell BiologyHematology
2002English

A Novel Mutation of the Myelin P0 Gene Segregating Charcot-Marie-Tooth Disease Type 1B Manifesting as Trigeminal Nerve Thickening

Journal of Neurology, Neurosurgery and Psychiatry
PsychiatryMental HealthNeurologySurgery
1999English

Identification and Characterization of a Novel 43-Bp Deletion Mutation of the ATP7B Gene in a Chinese Patient With Wilson’s Disease: A Case Report

BMC Medical Genetics
Genetics
2018English

A Novel Deletion Mutation in KMT2A Identified in a Child With ID/DD and Blood Eosinophilia

BMC Medical Genetics
Genetics
2019English

Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson’s Disease Pathogenesis

PLoS ONE
Multidisciplinary
2016English

Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease

PLoS ONE
Multidisciplinary
2014English

Identification and Functional Analysis of a Novel Von Willebrand Factor Mutation in a Family With Type 2A Von Willebrand Disease

PLoS ONE
Multidisciplinary
2012English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2025 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy