Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency. [electronic resource]
Producer: 20140421Description: 30 p. digitalISSN:- 1471-2350
- Abnormalities, Multiple -- diagnosis
- Adult
- Ataxia -- diagnosis
- Azoospermia -- diagnosis
- Base Sequence
- DNA Copy Number Variations
- Gene Dosage
- Hearing Loss, Sensorineural -- diagnosis
- Heterozygote
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Mitochondrial Diseases -- diagnosis
- Molecular Diagnostic Techniques
- Molecular Sequence Data
- Peroxisomal Multifunctional Protein-2 -- deficiency
- Phenotype
- Sequence Analysis, DNA
- Sequence Deletion
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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