Combined Malonic and Methylmalonic Aciduria: Exome Sequencing Reveals Mutations in the ACSF3 Gene in Patients With a Non-Classic Phenotype

Journal of Medical Genetics - United Kingdom
doi 10.1136/jmedgenet-2011-100230
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

BMJ

Related search

Adult-Onset Combined Methylmalonic Aciduria and Homocystinuria (cblC)

Neurology
Neurology
2001English

Cloning and Expression of Mutations Demonstrating Intragenic Complementation in Mut0 Methylmalonic Aciduria.

Journal of Clinical Investigation
Medicine
1994English

Methylmalonic Aciduria and Vitamin B12 Deficiency in the Rat

Journal of Nutritional Science and Vitaminology
MedicineNutritionDietetics
1973English

Prospective Evaluation of Pregnancy Outcome in an Italian Woman With Late-Onset Combined Homocystinuria and Methylmalonic Aciduria

BMC Pregnancy and Childbirth
GynecologyObstetrics
2019English

Homocystinuria Without Methylmalonic Aciduria

2020English

Whole-Exome Sequencing Reveals Frequent Mutations in Chromatin Remodeling Genes in Mammary and Extramammary Paget’s Diseases

Journal of Investigative Dermatology
BiochemistryDermatologyCell BiologyMolecular Biology
2019English

Next Generation Sequencing in Synovial Sarcoma Reveals Novel Gene Mutations

Oncotarget
Oncology
2015English

Exome Sequencing Identified New Mutations in a Marfan Syndrome Family

Diagnostic Pathology
Forensic MedicineMedicinePathologyHistology
2014English

Identification of Novel EXT Mutations in Patients With Hereditary Multiple Exostoses Using Whole-Exome Sequencing

Orthopaedic surgery
SurgeryOrthopedicsSports Medicine
2020English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy