Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. [electronic resource]
Producer: 20160106Description: 303-11 p. digitalISSN:- 1468-6244
- Animals
- Brain Diseases -- diagnosis
- Chromosome Mapping
- Consanguinity
- DNA Mutational Analysis
- Endopeptidase Clp -- genetics
- Exome
- Gene Knockdown Techniques
- Genetic Association Studies
- High-Throughput Nucleotide Sequencing
- Homozygote
- Humans
- Infant, Newborn
- Metabolism, Inborn Errors -- diagnosis
- Microcephaly -- diagnosis
- Mutation
- Pedigree
- Phenotype
- Siblings
- Zebrafish
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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