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Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria
- Source :
- Clinical Genetics. 80:297-300
- Publication Year :
- 2011
- Publisher :
- Wiley, 2011.
-
Abstract
- No abstract available
- Subjects :
- Male
Heterozygote
Subunit
Heredity
Protein subunit
DNA Mutational Analysis
nuclear genetic defects
ATP5E
Cardiomegaly
medicine.disease_cause
Glutarates
Mitochondrial Proteins
Consanguinity
H(+)-K(+)-Exchanging ATPase
Intellectual Disability
Genetics
medicine
Humans
In patient
Child
Gene
Genetics (clinical)
Sequence Deletion
Fetal Growth Retardation
ATP synthase
biology
Membrane Proteins
Proteins
deficiency
3-Methylglutaconic Aciduria
ATP Synthetase Complexes
Mutation (genetic algorithm)
biology.protein
Female
mutation
microdeletion
3-methylglutaconic aciduria
Acidosis
Subjects
Details
- ISSN :
- 00099163
- Volume :
- 80
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi.dedup.....6cb3d7838c2791c123037d3d353fbfe9