(Q34385742)

1 August 2017

Mutation analysis of UBE3A in Angelman syndrome patients (English)

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1 August 2017

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1 reference

P Malzac

1

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1 August 2017

H Webber

2

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1 August 2017

A Moncla

3

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1 August 2017

J M Graham

4

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1 August 2017

M Kukolich

5

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1 August 2017

C Williams

6

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1 August 2017

R A Pagon

7

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1 August 2017

L A Ramsdell

8

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1 August 2017

T Kishino

9

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1 August 2017

J Wagstaff

10

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1 August 2017

language of work or name

English

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publication date

1 June 1998

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American Journal of Human Genetics

1 August 2017

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1 August 2017

62

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1 August 2017

1353-1360

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1 August 2017

6

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Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377156

Physical interaction between specific E2 and Hect E3 enzymes determines functional cooperativity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377156

The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377156

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377156

UBE3A/E6-AP mutations cause Angelman syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377156

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377156

Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377156

Linkage analysis in familial Angelman syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377156

Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377156

A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377156

Genomic organization of the UBE3A/E6-AP gene and related pseudogenes.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377156

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377156

Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377156

Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377156

27 October 2018

Identifiers

DOI

10.1086/301877

1 reference

1 August 2017

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1 August 2017

1 reference