(Q33994293)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16550551%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16550551%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

ocular albinism type 1

1 reference

4

1 reference

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18 January 2020

Alberto Auricchio

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16550551%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Michele De Luca

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16550551%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Andrea Ballabio

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16550551%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Valeria Marigo

8

1 reference

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18 January 2020

1

Francesco Vetrini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16550551%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Roberta Tammaro

2

1 reference

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18 January 2020

Sergio Bondanza

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16550551%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

publication date

1 May 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16550551%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16550551%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16550551%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

issue

5

1 reference

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18 January 2020

page(s)

420-426

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16550551%20AND%20SRC:MED&resulttype=core&format=json

X-linked ocular albinism. An oculocutaneous macromelanosomal disorder

18 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

Mutational analysis of the OA1 gene in ocular albinism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

Genetic Mapping of X-Linked Ocular Albinism: Linkage Analysis in a Large Newfoundland Kindred

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

Human epithelial cells induce human melanocyte growth in vitro but only skin keratinocytes regulate its proper differentiation in the absence of dermis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

Morpholino antisense oligonucleotide induced dystrophin exon 23 skipping in mdx mouse muscle.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

Exonic splicing enhancer-dependent selection of the bovine papillomavirus type 1 nucleotide 3225 3' splice site can be rescued in a cell lacking splicing factor ASF/SF2 through activation of the phosphatidylinositol 3-kinase/Akt pathway

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

New splicing-site mutations in the SURF1 gene in Leigh syndrome patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

Linkage analysis in X-linked ocular albinism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

OA1 mutations and deletions in X-linked ocular albinism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20303

7 January 2021

Identifiers

DOI

10.1002/HUMU.20303

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16550551%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference