(Q28204977)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12754710%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12754710%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

1 reference

phenotypic heterogeneity

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12754710%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

Jagiello P

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12754710%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Hammans C

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12754710%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Wieczorek S

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12754710%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Arning L

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12754710%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Stefanski A

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12754710%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Strehl H

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12754710%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Gencik M

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12754710%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

language of work or name

English

0 references

publication date

1 June 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12754710%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12754710%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12754710%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12754710%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

630-635

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12754710%20AND%20SRC:MED&resulttype=core&format=json

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

3 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10220

7 January 2021

Alternative splicing: multiple control mechanisms and involvement in human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10220

7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10220

7 January 2021

HRS/SRp40-mediated inclusion of the fibronectin EIIIB exon, a possible cause of increased EIIIB expression in proliferating liver

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10220

7 January 2021

The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10220

7 January 2021

Alternative splicing during chondrogenesis: Modulation of fibronectin exon EIIIA splicing by SR proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10220

7 January 2021

Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10220

7 January 2021

A novel zinc finger coiled-coil domain in a family of nuclear proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10220

7 January 2021

Does this have a familiar RING?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10220

7 January 2021

A novel repeat domain that is often associated with RING finger and B-box motifs.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10220

7 January 2021

RT-PCR splicing analysis of the NF1 open reading frame

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10220

7 January 2021

A diverse family of proteins containing tumor necrosis factor receptor-associated factor domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10220

7 January 2021

Identifiers

DOI

10.1002/HUMU.10220

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12754710%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017