Akronym:	MC, CM
Gene:	CLCN1
Mutation:	c.2647_2648insA
Vererbung:	Autosomal recessive
Sample type:	CHS (Cheek Swab), WBE (Whole Blood EDTA)CHS (Cheek Swab), WBE (Whole Blood EDTA)CHS (Cheek Swab), WBE (Whole Blood EDTA)CHS (Cheek Swab), WBE (Whole Blood EDTA)CHS (Cheek Swab), WBE (Whole Blood EDTA)CHS (Cheek Swab)CHS (Cheek Swab), WBE (Whole Blood EDTA)CHS (Cheek Swab), WBE (Whole Blood EDTA)CHS (Cheek Swab), WBE (Whole Blood EDTA)CHS (Cheek Swab), WBE (Whole Blood EDTA)CHS (Cheek Swab), WBE (Whole Blood EDTA)CHS (Cheek Swab), WBE (Whole Blood EDTA)CHS (Cheek Swab), WBE (Whole Blood EDTA)
Methode:	LDPA (Ligation-dependent Probe Amplification), Sanger sequencingLDPA (Ligation-dependent Probe Amplification), Sanger sequencingSanger sequencingLDPA (Ligation-dependent Probe Amplification)LDPA (Ligation-dependent Probe Amplification)End-point PCR with agarose gel electrophoresisLDPA (Ligation-dependent Probe Amplification)LDPA (Ligation-dependent Probe Amplification)STR / microsatellite analysis (fragment analysis)Sanger sequencingSanger sequen