TY  - GEN
AU  - Rujirabanjerd,Sinitdhorn
AU  - Nelson,John
AU  - Tarpey,Patrick S
AU  - Hackett,Anna
AU  - Edkins,Sarah
AU  - Raymond,F Lucy
AU  - Schwartz,Charles E
AU  - Turner,Gillian
AU  - Iwase,Shigeki
AU  - Shi,Yang
AU  - Futreal,P Andrew
AU  - Stratton,Michael R
AU  - Gecz,Jozef
TI  - Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation
SN  - 1476-5438
PY  - 2010///0518
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - DNA Mutational Analysis
KW  - Electrophoresis, Agar Gel
KW  - Female
KW  - Genetic Association Studies
KW  - Histone Demethylases
KW  - Histones
KW  - metabolism
KW  - Humans
KW  - Male
KW  - Methylation
KW  - Molecular Sequence Data
KW  - Mutant Proteins
KW  - Mutation
KW  - genetics
KW  - Oxidoreductases, N-Demethylating
KW  - chemistry
KW  - Pedigree
KW  - Reverse Transcriptase Polymerase Chain Reaction
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1038/ejhg.2009.175
ER  -