DIBBENS, LEANNE MICHELLE,SCHEFFER, INGRID EILEEN,BERKOVIC, SAMUEL FRANK,MULLEY, JOHN CHARLES,GECZ, JOZEF
申请号：
CA2711497
公开号：
CA2711497C
申请日:
2009.01.05
申请国别(地区):
CA
年份:
2017
代理人:
摘要：
Methods and kits for the diagnosis of illnesses related to protocadherin 19(PCDH 19) protein deficiency or alteredPCDH 19 protein function, in particular EFMR (Epilepsy and Mental Retardationlimited to Females) are provided, as well as meth-odsand kits for the identification of a predisposition to such illnesses andmethods of screening subjects to identify carriers of suchillnesses and methods and kits for the therapeutic or prophylactic treatmentof PCDH 19 deficiency or altered PCDH 19 proteinfunction. Further, nucleotide and amino acid sequences corresponding to acomplete PCDH19 open reading frame (ORF), mutantsequences encoding non-functional PCDH19 mRNA or altered PCDH19 mRN A aredescribed along with transformed cells andnon-human transgenic animals comprising wild-type or mutant PCDH19 ORFnucleotide sequences.
