Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. [electronic resource]
Producer: 20100518Description: 330-5 p. digitalISSN:- 1476-5438
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- Electrophoresis, Agar Gel
- Female
- Genetic Association Studies
- Histone Demethylases
- Histones -- metabolism
- Humans
- Male
- Methylation
- Molecular Sequence Data
- Mutant Proteins -- metabolism
- Mutation -- genetics
- Oxidoreductases, N-Demethylating -- chemistry
- Pedigree
- Reverse Transcriptase Polymerase Chain Reaction
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Publication Type: Case Reports; Journal Article
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