Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP. (Q46507573)

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9 March 2020

title

Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP (English)

1 reference

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9 March 2020

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Beatrice Schuster

1

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9 March 2020

Kerstin Knies

2

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9 March 2020

Chantal Stoepker

3

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9 March 2020

Richard Friedl

5

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9 March 2020

Birgit Gottwald-Mühlhauser

6

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9 March 2020

Johan P de Winter

7

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9 March 2020

publication date

16 October 2012

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9 March 2020

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9 March 2020

volume

34

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9 March 2020

issue

1

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9 March 2020

page(s)

93-96

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Drosophila MUS312 and the vertebrate ortholog BTBD12 interact with DNA structure-specific endonucleases in DNA repair and recombination

9 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22221

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22221

Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22221

DNA interstrand crosslink repair and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22221

Mutations of the SLX4 gene in Fanconi anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22221

Guido Fanconi (1892-1979): a jack of all trades.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22221

Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22221

Cancer incidence in persons with Fanconi anemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22221

How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22221

Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22221

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22221

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22221

Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22221

Mutation of the RAD51C gene in a Fanconi anemia-like disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22221

Confirmation of Fanconi's anemia and detection of a chromosomal aberration (1Q12-32 triplication) via BrdU/Hoechst flow cytometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22221

inferred from DOI database lookup

7 January 2021

based on heuristic

Spontaneous chromosome aberrations in familial panmyelopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22221

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22221

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23033263%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

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