Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.

Jane Yates; Winifred Keeble; Gerard Pals; Najim Ameziane; Rosalina van Spaendonk; Susan Olson; Yassmine Akkari; Ricardo Pasquini; Grover Bagby

doi:10.1002/humu.9402

Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.

Jane Yates, Winifred Keeble, Gerard Pals, Najim Ameziane, Rosalina van Spaendonk, Susan Olson, Yassmine Akkari, Ricardo Pasquini, Grover Bagby

Molecular and Medical Genetics

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

We have identified three novel FANCC mutations, a truncating single base insertion in exon 4 (c.455_456dupA), a point mutation in exon 13 (c.1390C>T), and a splice site mutation leading to deletion of exon 9, in two Brazilian FA-C patients, each a compound heterozygote. Using complementation analyses, we confirmed that two of these mutations inactivate the function of the FANCC protein. 2006 Wiley-Liss, Inc.

Original language	English (US)
Pages (from-to)	214
Number of pages	1
Journal	Human mutation
Volume	27
Issue number	2
DOIs	https://doi.org/10.1002/humu.9402
State	Published - Feb 2006

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.",

abstract = "We have identified three novel FANCC mutations, a truncating single base insertion in exon 4 (c.455_456dupA), a point mutation in exon 13 (c.1390C>T), and a splice site mutation leading to deletion of exon 9, in two Brazilian FA-C patients, each a compound heterozygote. Using complementation analyses, we confirmed that two of these mutations inactivate the function of the FANCC protein. 2006 Wiley-Liss, Inc.",

author = "Jane Yates and Winifred Keeble and Gerard Pals and Najim Ameziane and {van Spaendonk}, Rosalina and Susan Olson and Yassmine Akkari and Ricardo Pasquini and Grover Bagby",

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AU - Yates, Jane

AU - Keeble, Winifred

AU - Pals, Gerard

AU - Ameziane, Najim

AU - van Spaendonk, Rosalina

AU - Olson, Susan

AU - Akkari, Yassmine

AU - Pasquini, Ricardo

AU - Bagby, Grover

PY - 2006/2

Y1 - 2006/2

N2 - We have identified three novel FANCC mutations, a truncating single base insertion in exon 4 (c.455_456dupA), a point mutation in exon 13 (c.1390C>T), and a splice site mutation leading to deletion of exon 9, in two Brazilian FA-C patients, each a compound heterozygote. Using complementation analyses, we confirmed that two of these mutations inactivate the function of the FANCC protein. 2006 Wiley-Liss, Inc.

AB - We have identified three novel FANCC mutations, a truncating single base insertion in exon 4 (c.455_456dupA), a point mutation in exon 13 (c.1390C>T), and a splice site mutation leading to deletion of exon 9, in two Brazilian FA-C patients, each a compound heterozygote. Using complementation analyses, we confirmed that two of these mutations inactivate the function of the FANCC protein. 2006 Wiley-Liss, Inc.

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Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.

Abstract

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