Daoud, H. et al. Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.
P.V.V., M.H., I.R., J.B.S. and J.P. performed mutation analysis of SUZ12, EZH2 and EED.
Verdijk RM, den Bakker MA, Dubbink HJ, et al. TP53 mutation analysis of malignant peripheral nerve sheath tumors.
Mori, S. et al. Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree.
Genomic DNA was isolated from blood, and mutation analysis of GNAS1 was performed.
Mutation analysis of ZNF750 exon 2. Variation in severity of cutaneous manifestations was observed among 10 affected family members studied in detail.
Messiaen, L. M. et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
Otto, E. A. et al. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Mori S, Nakamura M, Yasuda T, Ueno S, Kaneko S, Sano A. Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree.
Goedbloed M, Vermeulen M, Fang RN et al: Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR Yfiler PCR amplification kit.
Mutation analysis of the Epidermal Growth Factor Receptor (EGFR) downstream has been a main part of colorectal carcinoma evaluation.
