A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.
Caluseriu
O
O
Department of Medical Genetics, A. Gemelli School of Medicine, Catholic University, Rome, Italy.
Di Gregorio
C
C
Lucci-Cordisco
E
E
Santarosa
M
M
Trojan
J
J
Brieger
A
A
Benatti
P
P
Pedroni
M
M
Colibazzi
T
T
Bellacosa
A
A
Neri
G
G
Ponz de Leon
M
M
Viel
A
A
Genuardi
M
M
D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D002460:Cell Line; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D007558:Italy; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D000070957:MutL Protein Homolog 1; D009363:Neoplasm Proteins / Q000032:analysis / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism; D009687:Nuclear Proteins; D010375:Pedigree
D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1