Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia.

Rio Frio, Thomas

Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia. [electronic resource] - The New England journal of medicine Dec 2010 - 2628-37 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1533-4406

10.1056/NEJMoa1006565 doi


Adenocarcinoma--genetics
Adenoma--genetics
Adenomatous Polyposis Coli Protein--genetics
Aged
Chromosome Disorders--genetics
DNA Mutational Analysis
Female
Gastrointestinal Neoplasms--genetics
Genetic Predisposition to Disease
Genomic Instability
Germ-Line Mutation
Homozygote
Humans
Karyotyping
Male
Mosaicism
Oligonucleotide Array Sequence Analysis
Pedigree
Phenotype
Protein Serine-Threonine Kinases--genetics
Spindle Apparatus