Identification of a Familial Mutation Associated With GABA-Transaminase Deficiency Disease

Neurobiology of Disease - United States
doi 10.1006/nbdi.1998.0184
Full Text
Abstract

Available in full text

Categories
Neurology
Date
Authors
Publisher

Elsevier BV

Related search

A Case Report: Familial Glucocorticoid Deficiency Associated With Familial Focal Segmental Glomerulosclerosis

BMC Endocrine Disorders
MedicineEndocrinologyMetabolismDiabetes
2012English

Familial Mutation in Caffey Disease With Reduced Penetrance: A Case Report

Turkish Journal of Pediatrics
Child HealthPediatricsPerinatology
2016English

A Novel KAL1 Mutation Is Associated With Combined Pituitary Hormone Deficiency

Human Genome Variation
BiochemistryGeneticsMolecular Biology
2014English

Functional Analysis of a Troponin I (R145G) Mutation Associated With Familial Hypertrophic Cardiomyopathy

Journal of Biological Chemistry
BiochemistryCell BiologyMolecular Biology
2002English

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

Identification of a Novel 14q13.3 Deletion Involving theSLC25A21Gene Associated With Familial Synpolydactyly

Molecular Syndromology
Genetics
2012English

Identification of a Novel TTC19 Mutation in a Portuguese Family With Complex III Deficiency

Mitochondrion
Molecular MedicineCell BiologyMolecular Biology
2012English

UBR5Gene Mutation Is Associated With Familial Adult Myoclonic Epilepsy in a Japanese Family

ISRN Neurology
2012English

A Connexin40 Mutation Associated With a Malignant Variant of Progressive Familial Heart Block Type I

Circulation: Arrhythmia and Electrophysiology
MedicineCardiovascular MedicinePhysiologyCardiology
2012English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy