(Q34515017)

2 August 2017

title

DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression (English)

1 reference

ORCID Public Data File 2021

2 August 2017

1 reference

author name string

Jamie M Margolis

1

1 reference

2 August 2017

Benedikt G Schoser

2

1 reference

2 August 2017

Melinda L Moseley

3

1 reference

2 August 2017

John W Day

4

1 reference

2 August 2017

Laura P W Ranum

5

1 reference

2 August 2017

publication date

19 April 2006

1 reference

2 August 2017

published in

Human Molecular Genetics

1 reference

2 August 2017

volume

15

1 reference

2 August 2017

issue

11

1 reference

2 August 2017

page(s)

1808-1815

1 reference

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL103

Clinical and molecular aspects of the myotonic dystrophies: a review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL103

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL103

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL103

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL103

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL103

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL103

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL103

Deconstructing myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL103

Conversion of diploidy to haploidy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL103

Homozygosity for CCTG mutation in myotonic dystrophy type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL103

Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL103

21 January 2018

Identifiers

DOI

10.1093/HMG/DDL103

1 reference

release_ltbuexjpd5dk7cghol3otwxr34

2 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ltbuexjpd5dk7cghol3otwxr34

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference