Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

Rujirabanjerd, Sinitdhorn

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