Peterlongo, Paolo <br/><br/>
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.  [electronic resource] 

 -  Human molecular genetics  Sep 2015 
 - 5345-55 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddv251  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Age of Onset<br/>Alleles<br/>Alternative Splicing<br/>Binding Sites<br/>Breast Neoplasms--epidemiology<br/>Case-Control Studies<br/>Codon, Nonsense<br/>DNA Helicases--genetics<br/>DNA Mutational Analysis<br/>DNA Repair<br/>Exons<br/>Female<br/>Gene Expression<br/>Gene Frequency<br/>Genetic Association Studies<br/>Genetic Predisposition to Disease<br/>Genotype<br/>Heterogeneous Nuclear Ribonucleoprotein A1<br/>Heterogeneous-Nuclear Ribonucleoprotein Group A-B--metabolism<br/>Humans<br/>Meta-Analysis as Topic<br/>Middle Aged<br/>Nucleotide Motifs<br/>Position-Specific Scoring Matrices<br/>Protein Binding<br/>Risk Factors<br/>Young Adult