Sequence variation in the Fanconi anemia gene FAA (Q24657452)

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T Erlich

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N Magdalena

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J J Gregory

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S D Batish

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P C Verlander

Proceedings of the National Academy of Sciences of the United States of America

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language of work or name

English

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publication date

25 November 1997

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published in

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volume

94

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issue

24

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page(s)

13051-6

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cites work

Evidence for at least eight Fanconi anemia genes

1 reference

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Mutation analysis of the Fanconi anemia gene FACC

7 April 2017

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Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome

7 April 2017

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Mutator phenotype of Werner syndrome is characterized by extensive deletions

7 April 2017

1 reference

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Cloning of cDNAs for Fanconi's anaemia by functional complementation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

Cancer-susceptibility genes. Gatekeepers and caretakers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

Positional cloning of the Fanconi anaemia group A gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

Cytosine methylation determines hot spots of DNA damage in the human P53 gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

A locus for Fanconi anemia on 16q determined by homozygosity mapping

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry.

28 September 2017

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Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

The molecular mechanism underlying formation of deletions in Fanconi anemia cells may involve a site-specific recombination

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

Slippage--misalignment: to what extent does it contribute to mammalian cell mutagenesis?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

WT1 exon 1 deletion/insertion mutations in Wilms tumor patients, associated with di- and trinucleotide repeats and deletion hotspot consensus sequences

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

Misalignment-mediated DNA synthesis errors

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

Deletions and insertions in the p53 tumor suppressor gene in human cancers: confirmation of the DNA polymerase slippage/misalignment model.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

Mutagenesis by transient misalignment.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

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

19 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.94.24.13051

Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.94.24.13051

Fanconi anemia diagnosis and the diepoxybutane (DEB) test.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=24261

Short direct repeats flanking deletions, and duplicating insertions in p53 gene in human cancers

28 November 2018

1 reference

12 December 2020

Frequencies of HPRT− lymphocytes and glycophorin A variants erythrocytes in Fanconi anemia patients, their parents and control donors

1 reference

12 December 2020

Deletion and insertion mutations in short tandem repeats in the coding regions of human genes

1 reference

12 December 2020

Characterization of an apparent hotspot for spontaneous mutation in exon 5 of the Chinese hamster APRT gene

1 reference

12 December 2020

Heterogenous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/CpNpG motifs

1 reference

12 December 2020

Diagnosis of Fanconi anemia in patients without congenital malformations: An international Fanconi anemia registry study

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.94.24.13051

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ADS bibcode

1997PNAS...9413051L

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1 reference

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PubMed publication ID

9371798

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