(Q52060614)

20 April 2018

title

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. (English)

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20 April 2018

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6

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20 April 2018

Orna Levran

1

object named as

Orna Levran

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author name string

Orna Levran

1

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20 April 2018

Raffaella Diotti

2

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20 April 2018

Kanan Pujara

3

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20 April 2018

Sat D Batish

4

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20 April 2018

Helmut Hanenberg

5

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20 April 2018

publication date

1 February 2005

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20 April 2018

published in

Human Mutation

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20 April 2018

volume

25

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20 April 2018

issue

2

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20 April 2018

page(s)

142-149

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20 April 2018

Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: lack of FANCA protein

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Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients.

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Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions.

21 January 2018

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The Fanconi anaemia group G gene FANCG is identical with XRCC9

21 January 2018

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The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG

21 January 2018

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Isolation of a cDNA representing the Fanconi anemia complementation group E gene

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Positional cloning of the Fanconi anaemia group A gene

21 January 2018

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BRCA1 interacts directly with the Fanconi anemia protein FANCA

21 January 2018

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Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex

21 January 2018

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Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway

21 January 2018

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Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems

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Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.

21 January 2018

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Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool.

21 January 2018

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Biallelic inactivation of BRCA2 in Fanconi anemia

21 January 2018

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Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease ty

21 January 2018

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The genomic organization of the Fanconi anemia group A (FAA) gene.

21 January 2018

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Evidence for at least eight Fanconi anemia genes

21 January 2018

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Resistance to mitomycin C requires direct interaction between the Fanconi anemia proteins FANCA and FANCG in the nucleus through an arginine-rich domain

21 January 2018

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A 20-year perspective on the International Fanconi Anemia Registry (IFAR).

21 January 2018

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Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes

21 January 2018

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Sequence variation in the Fanconi anemia gene FAA

21 January 2018

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Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.

21 January 2018

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A novel ubiquitin ligase is deficient in Fanconi anemia

21 January 2018

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High frequency of large intragenic deletions in the Fanconi anemia group A gene

21 January 2018

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Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients

21 January 2018

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Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3.

21 January 2018

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Mutations of the Fanconi anemia group A gene (FAA) in Italian patients

21 January 2018

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Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant

21 January 2018

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

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Cloning of cDNAs for Fanconi's anaemia by functional complementation

21 January 2018

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Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.

21 January 2018

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Positional cloning of a novel Fanconi anemia gene, FANCD2

21 January 2018

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Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa

21 January 2018

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Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

21 January 2018

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Haplotype analysis in population genetics and association studies

21 January 2018

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Diagnosis of fanconi anemia by diepoxybutane analysis

21 January 2018

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7 January 2021

Spectrum of sequence variation in theFANCG gene: An International Fanconi Anemia Registry (IFAR) study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20125

7 January 2021

Identification ofAlu-mediated deletions in the Fanconi anemia geneFAA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20125

7 January 2021

Screening strategies for a highly polymorphic gene: DHPLC analysis of the Fanconi anemia group A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20125

7 January 2021

Identifiers

DOI

10.1002/HUMU.20125

1 reference

20 April 2018

PubMed ID

15643609

1 reference

20 April 2018