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Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor compli...

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor compli...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ea49e32bd84245c4adce7e6a431c0b4d

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

About this item

Full title

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Publisher

England: BioMed Central Ltd

Journal title

Human genomics, 2012-08, Vol.6 (1), p.12-12

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder with an increased susceptibility to develop both benign and malignant tumors but with a wide spectrum of inter and intrafamilial clinical variability. The establishment of genotype-phenotype associations in NF1 is potentially useful for targeted therapeutic intervention but has gen...

Alternative Titles

Full title

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_ea49e32bd84245c4adce7e6a431c0b4d

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ea49e32bd84245c4adce7e6a431c0b4d

Other Identifiers

ISSN

1479-7364,1473-9542

E-ISSN

1479-7364

DOI

10.1186/1479-7364-6-12

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