High frequency of large intragenic deletions in the Fanconi anemia group A gene (Q24534222)

5 July 2017

title

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

1 reference

5 July 2017

1 reference

Christopher G. Mathew

series ordinal

4

1 reference

5 July 2017

N V Morgan

1

1 reference

5 July 2017

A J Tipping

series ordinal

2

1 reference

5 July 2017

H Joenje

series ordinal

3

1 reference

5 July 2017

language of work or name

English

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publication date

1 November 1999

1 reference

American Journal of Human Genetics

5 July 2017

published in

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5 July 2017

volume

65

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5 July 2017

issue

5

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5 July 2017

page(s)

1330-1341

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The Fanconi anemia group E gene, FANCE, maps to chromosome 6p

5 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

The Fanconi anaemia group G gene FANCG is identical with XRCC9

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

Evidence for at Least Eight Fanconi Anemia Genes

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

Sequence variation in the Fanconi anemia gene FAA

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

Mutation analysis of the Fanconi anemia gene FACC

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

24 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

24 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

Novel mutations and polymorphisms in the Fanconi anemia group C gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

Positional cloning of the Fanconi anaemia group A gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

Fanconi anaemia in Italy: high prevalence of complementation group A in two geographic clusters

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

Recombination Hot Spots and Human Disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

Ultrarapid mutation detection by multiplex, solid-phase chemical cleavage

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

Fanconi anemia diagnosis and the diepoxybutane (DEB) test.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288285

Chemical cleavage of mismatch: a new look at an established method

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10521298

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification ofAlu-mediated deletions in the Fanconi anemia geneFAA

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10521298

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10521298

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302627

1 reference

5 July 2017

1 reference

5 July 2017

1 reference