(Q33596205)

28 July 2017

Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families (English)

1 reference

ORCID Public Data File 2021

28 July 2017

1 reference

author name string

R A Gibson

1

1 reference

28 July 2017

D Ford

2

1 reference

28 July 2017

S Jansen

3

1 reference

28 July 2017

A Savoia

4

1 reference

28 July 2017

C Havenga

5

1 reference

28 July 2017

R D Milner

6

1 reference

28 July 2017

T J de Ravel

7

1 reference

28 July 2017

R J Cohn

8

1 reference

28 July 2017

S E Ball

9

1 reference

28 July 2017

I Roberts

10

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 November 1994

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

31

1 reference

28 July 2017

11

1 reference

28 July 2017

868-871

1 reference

Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016661

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016661

Mutation analysis of the Fanconi anemia gene FACC

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016661

Mutations of the RET proto-oncogene in Hirschsprung's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016661

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016661

A nonsense mutation and exon skipping in the Fanconi anaemia group C gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016661

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016661

Construction of multilocus genetic linkage maps in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016661

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016661

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016661

Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016661

Fanconi anemia: constitutional aplastic anemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016661

Cloning of cDNAs for Fanconi's anaemia by functional complementation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016661

A second-generation linkage map of the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016661

Location of gene for Gorlin syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016661

Fanconi anemia: another disease of unusually high prevalence in the Afrikaans population of South Africa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016661

The cytogenetic response of Fanconi’s anemia lymphoblastoid cell lines to various clastogens

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7853372

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Fanconi anemia: Evidence for linkage heterogeneity on chromosome 20q

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7853372

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Multiple self-healing squamous epitheliomata (ESS1) mapped to chromosome 9q22-q31 in families with common ancestry

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7853372

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.31.11.868

1 reference

28 July 2017

1 reference

28 July 2017

1 reference