Identification of three novel menin mutations (c.741delGTCA, c.1348T>C, c.1785delA) in unrelated Italian families affected with multiple endocrine neoplasia type 1: Additional information for mutational screening.
Institute of Endocrine Sciences, University of Milan, Ospedale Maggiore IRCCS.
C
C
Asteria
G
G
Faglia
R
R
Roncoroni
G
G
Borretta
P
P
Ribotto
P
P
Beck-Peccoz
D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005820:Genetic Testing; D006801:Humans; D007558:Italy; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D017354:Point Mutation; D011518:Proto-Oncogene Proteins; D017384:Sequence Deletion
C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; D004247:DNA