Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2007-02

AUTHORS

Sarah Reid, Detlev Schindler, Helmut Hanenberg, Karen Barker, Sandra Hanks, Reinhard Kalb, Kornelia Neveling, Patrick Kelly, Sheila Seal, Marcel Freund, Melanie Wurm, Sat Dev Batish, Francis P Lach, Sevgi Yetgin, Heidemarie Neitzel, Hany Ariffin, Marc Tischkowitz, Christopher G Mathew, Arleen D Auerbach, Nazneen Rahman

ABSTRACT

PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies. We identified pathogenic mutations in PALB2 (also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to biallelic BRCA2 mutations, confer a high risk of childhood cancer. More... »

PAGES

162-164

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1947

DOI

http://dx.doi.org/10.1038/ng1947

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1030963670

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/17200671


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JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/ng1947'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/ng1947'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng1947'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng1947'


 

This table displays all metadata directly associated to this object as RDF triples.

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