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.
Department of Medical Genetics, A. Gemelli School of Medicine, Catholic University, Rome, Italy.
O
O
Caluseriu
C
C
Di Gregorio
E
E
Lucci-Cordisco
M
M
Santarosa
J
J
Trojan
A
A
Brieger
P
P
Benatti
M
M
Pedroni
T
T
Colibazzi
A
A
Bellacosa
G
G
Neri
M
M
Ponz de Leon
A
A
Viel
M
M
Genuardi
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