(Q48126233)

English

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.

scientific article published in September 2005

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/16086312

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. (English)

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/16086312

genetic disease

1 reference

based on heuristic

inferred from title

David N. Cooper

5

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/16086312

Nadia Chuzhanova

6

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/16086312

Michael Krawczak

4

object named as

Michael Krawczak

1 reference

Europe PubMed Central

8 February 2018

author name string

Edward V Ball

1

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/16086312

Peter D Stenson

2

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/16086312

Shaun S Abeysinghe

3

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/16086312

publication date

1 September 2005

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/16086312

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/16086312

26

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/16086312

205-213

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/16086312

3

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/16086312

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Hypermutability at a poly(A/T) tract in the human germline

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Pre-mRNA secondary structure and the regulation of splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Mechanisms of insertional mutagenesis in human genes causing genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation rate and specificity analysis of tetranucleotide microsatellite DNA alleles in somatic human cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel mutations and a mutational hotspot in the MODY3 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

On the complexity measures of genetic sequences.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Context of deletions and insertions in human coding sequences.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA replication fidelity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA replication fidelity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Sequence variation in the Fanconi anemia gene FAA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Long runs of adenines and human mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the neurofibromatosis type 1 (NF1) tumour-suppressor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Somatic mutation hotspots correlate with DNA polymerase eta error spectrum.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Theoretical analysis of mutation hotspots and their DNA sequence context specificity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Meiotic microdeletion breakpoints in the BRCA1 gene are significantly associated with symmetric DNA-sequence elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Human Gene Mutation Database (HGMD): 2003 update.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Recombinational and mutational hotspots within the human lipoprotein lipase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Replication slippage involves DNA polymerase pausing and dissociation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20212

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20212

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/16086312

1 reference

Europe PubMed Central

8 February 2018

http://europepmc.org/abstract/MED/16086312

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q48126233&oldid=1522475246"