(Q73115539)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10534773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10534773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

Albert de la Chapelle

5

object named as

A de la Chapelle

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10534773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

M Nyström-Lahti

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10534773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M Holmberg

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10534773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

P Fidalgo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10534773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

R Salovaara

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10534773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

J Jiricny

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10534773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

P Peltomäki

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10534773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

publication date

1 December 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10534773%20AND%20SRC:MED&resulttype=core&format=json

Genes, Chromosomes and Cancer

1 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10534773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10534773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

372-375

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10534773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10534773%20AND%20SRC:MED&resulttype=core&format=json

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 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-2264%28199912%2926%3A4%3C372%3A%3AAID-GCC12%3E3.0.CO%3B2-V

The skipping of constitutive exons in vivo induced by nonsense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-2264%28199912%2926%3A4%3C372%3A%3AAID-GCC12%3E3.0.CO%3B2-V

Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-2264%28199912%2926%3A4%3C372%3A%3AAID-GCC12%3E3.0.CO%3B2-V

Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-2264%28199912%2926%3A4%3C372%3A%3AAID-GCC12%3E3.0.CO%3B2-V

Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-2264%28199912%2926%3A4%3C372%3A%3AAID-GCC12%3E3.0.CO%3B2-V

Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-2264%28199912%2926%3A4%3C372%3A%3AAID-GCC12%3E3.0.CO%3B2-V

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-2264%28199912%2926%3A4%3C372%3A%3AAID-GCC12%3E3.0.CO%3B2-V

Mutations of two PMS homologues in hereditary nonpolyposis colon cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-2264%28199912%2926%3A4%3C372%3A%3AAID-GCC12%3E3.0.CO%3B2-V

DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-2264%28199912%2926%3A4%3C372%3A%3AAID-GCC12%3E3.0.CO%3B2-V

Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-2264%28199912%2926%3A4%3C372%3A%3AAID-GCC12%3E3.0.CO%3B2-V

MSH2 andMLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-2264%28199912%2926%3A4%3C372%3A%3AAID-GCC12%3E3.0.CO%3B2-V

10.1002/(SICI)1098-2264(199912)26:4<372::AID-GCC12>3.0.CO;2-V

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10534773%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference