Human mutation

(Hum Mutat) ISSNs: , 1098-1004

References in Human mutation:

Title Authors Year
PCR-based detection of minority point mutations. Mike Makrigiorgos G 2004
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. Di Fonzo A, Bordoni A, Crimi M, Sara G, Del Bo R, Bresolin N, Comi GP 2003
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong CK, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC 2008
Splice-site genetic polymorphism of the human kallikrein 12 (KLK12) gene correlates with no substantial expression of KLK12 protein having serine protease activity. Shinmura K, Tao H, Yamada H, Kataoka H, Sanjar R, Wang J, Yoshimura K, Sugimura H 2004

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