(Q28261288)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8348157%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8348157%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

4

1 reference

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29 October 2019

Markus Grompe

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8348157%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

author name string

Whitney MA

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8348157%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

Saito H

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8348157%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

Jakobs PM

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8348157%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

Moses RE

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8348157%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

language of work or name

English

0 references

publication date

1 June 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8348157%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8348157%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8348157%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8348157%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

page(s)

202-205

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8348157%20AND%20SRC:MED&resulttype=core&format=json

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

29 October 2019

cites work

1 reference

Cloning of cDNAs for Fanconi's anaemia by functional complementation

21 April 2017

1 reference

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

21 April 2017

1 reference

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

21 April 2017

1 reference

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-202

Direct analysis of single nucleotide variation in human DNA and RNA using in situ dot hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-202

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-202

Comparison of the sensitivity of Fanconi's anemia and normal fibroblasts to the induction of sister-chromatid exchanges by photoaddition of mono- and bi-functional psoralens

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-202

7 January 2021

Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-202

7 January 2021

Fanconi anemia: Evidence for linkage heterogeneity on chromosome 20q

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-202

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-202

7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-202

7 January 2021

Biochemistry and Genetics of Tay-Sachs Disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-202

7 January 2021

The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-202

7 January 2021

Apurinic DNA endonuclease activities in repair-deficient human cell lines

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-202

7 January 2021

Reactivation of psoralen-reacted plasmid DNA in Fanconi anemia, xeroderma pigmentosum, and normal human fibroblast cells

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-202

7 January 2021

Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-202

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-202

7 January 2021

Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-202

7 January 2021