(Q45880135)

17 December 2017

title

Differential termination of primer extension: a novel, quantifiable method for detection of point mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1587524

11 October 2022

author name string

D. J. Picketts

1

1 reference

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11 October 2022

C. Cameron

2

1 reference

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11 October 2022

S. A. Taylor

3

1 reference

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11 October 2022

K. V. Deugau

4

1 reference

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11 October 2022

D. P. Lillicrap

5

1 reference

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11 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1587524

11 October 2022

publication date

1 May 1992

1 reference

17 December 2017

published in

Human Genetics

1 reference

17 December 2017

volume

89

1 reference

17 December 2017

issue

2

1 reference

17 December 2017

page(s)

155-157

1 reference

17 December 2017

https://scigraph.springernature.com/pub.10.1007/bf00217115

exact match

0 references

cites work

Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes

1 reference

12 December 2020

Primer extension technique for the detection of single nucleotide in genomic DNA.

1 reference

12 December 2020

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

1 reference

12 December 2020

Molecular pathology of haemophilia B

1 reference

12 December 2020

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

12 December 2020

Detection of new mutation disease in man and mouse.

1 reference

12 December 2020

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

1 reference

12 December 2020

Methods of detection of single base substitutions in clinical genetic practice

1 reference

12 December 2020

Direct carrier testing in 14 families with haemophilia B.

1 reference

12 December 2020

Haemophilia B: database of point mutations and short additions and deletions--second edition

1 reference

12 December 2020

Comparison of phenotypic assessment and the use of two restriction fragment length polymorphisms in the diagnosis of the carrier state in haemophilia B.

1 reference

12 December 2020

Comparison of direct and indirect methods of carrier detection in an X-linked disease

1 reference

12 December 2020

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00217115

1 reference

17 December 2017

Dimensions Publication ID

1017223943

0 references

Fatcat ID

release_drisr773kjg5zj45pty4luuede

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/drisr773kjg5zj45pty4luuede

24 November 2022

mapped directly with Wikidata item

1 reference

17 December 2017