Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. [electronic resource]
- European journal of human genetics : EJHG Mar 2010
- 330-5 p. digital
Publication Type: Case Reports; Journal Article
1476-5438
10.1038/ejhg.2009.175 doi
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