Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

3-Methylglutaconic aciduria (3-MGA-uria) is a heterogeneous group of syndromes characterized by an increased excretion of 3-methylglutaconic and 3-methylglutaric acids. Five types of 3-MGA-uria (I to V) with different clinical presentations have been described. Causative mutations in TAZ, OPA3, DNAJ...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2013-09, Vol.110 (1-2), p.73-77
Main Authors: Tort, Frederic, García-Silva, María Teresa, Ferrer-Cortès, Xènia, Navarro-Sastre, Aleix, Garcia-Villoria, Judith, Coll, Maria Josep, Vidal, Enrique, Jiménez-Almazán, Jorge, Dopazo, Joaquín, Briones, Paz, Elpeleg, Orly, Ribes, Antonia
Format: Article
Language:English
Subjects:
3-Methylglutaconic
Acids
Adolescent
Adult
atrophy
Carboxylic Ester Hydrolases - genetics
Child
excretion
Exome
Exome - genetics
Female
fibroblasts
High-Throughput Nucleotide Sequencing
homozygosity
Humans
Infant
Male
MEGDEL
Metabolism, Inborn Errors - genetics
Metabolism, Inborn Errors - pathology
Mutation
patients
phenotype
prediction
sequence analysis
SERAC1
stop codon
Western blotting
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