Mutation screening of the NBS1 gene was carried out to confirm the diagnosis in 7 cases.
Accordingly, our results pave the way for potentially less invasive mutation screening of MM patients through characterization of CTCs.
For hemiplegic migraine, mutation screening of CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3) is suggested although it has neither phenotypic nor therapeutic application at this time [7].
We designed mutation screening of exon 5 of CHRNA4, exon 5 of CHRNB2, and exon 6 of CHRNA2 in a group of 56 Chinese sporadic NFLE cases.
Mutation screening of COL5A2 was normal.
Mutation screening of 93 TOF cases revealed no VEGF coding sequence variants and no changes at splice consensus sequences.
We carried out a mutation screening of HOMEZ with bidirectional sequencing in a subset of Indian probands (n = 54).
However, no previous study has systematically carried out mutation screening of the VEGF gene in CVM cases.
After mutation screening of eight exons of EDA gene in Family B, a c.1013C>T transition mutation of EDA gene was observed (Fig. 5).
A COL5A1 null-allele assay and mutation screening of COL5A1 and COL5A2 at gDNA and cDNA level respectively were performed as described previously [5].
However, mutation screening of 44 primary neuroblastomas of all different stages, failed to detect any mutations.
