(Q53925507)

22 May 2018

title

A characterization of genetic variants in BRCA1 intron 8 identifies a mutation and a polymorphism. (English)

1 reference

22 May 2018

1 reference

Pyne MT

1

1 reference

22 May 2018

Pruss D

series ordinal

2

1 reference

22 May 2018

Ward BE

series ordinal

3

1 reference

22 May 2018

Scholl T

series ordinal

4

1 reference

22 May 2018

language of work or name

English

0 references

publication date

1 August 1999

1 reference

22 May 2018

published in

Mutation Research

1 reference

22 May 2018

volume

406

1 reference

22 May 2018

issue

2-4

1 reference

22 May 2018

page(s)

101-107

1 reference

22 May 2018

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2899%2900006-0

7 January 2021

Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2899%2900006-0

7 January 2021

The 12 base pair duplication/insertion alteration could be a regulatory mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2899%2900006-0

7 January 2021

Implications of a novel cryptic splice site in the BRCA1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2899%2900006-0

7 January 2021

BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2899%2900006-0

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/10.1016%2FS1383-5726%2899%2900006-0

7 January 2021

A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2899%2900006-0

7 January 2021

Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2899%2900006-0

7 January 2021

Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2899%2900006-0

7 January 2021

10.1016/S1383-5726(99)00006-0

Identifiers

DOI

1 reference

22 May 2018

1 reference

22 May 2018