1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes.

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1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes.

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http://www.wikidata.org/entity/Q34519257

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2012 nî lūn-bûn

@nan

2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

name

1031-1034delTAAC (Leu125Stop): ...... s showing distinct phenotypes.

@ast

1031-1034delTAAC (Leu125Stop): ...... s showing distinct phenotypes.

@en

1031-1034delTAAC

@nl

type

Item

label

1031-1034delTAAC (Leu125Stop): ...... s showing distinct phenotypes.

@ast

1031-1034delTAAC (Leu125Stop): ...... s showing distinct phenotypes.

@en

1031-1034delTAAC

@nl

prefLabel

1031-1034delTAAC (Leu125Stop): ...... s showing distinct phenotypes.

@ast

1031-1034delTAAC (Leu125Stop): ...... s showing distinct phenotypes.

@en

1031-1034delTAAC

@nl

P1476

1031-1034delTAAC (Leu125Stop): ...... s showing distinct phenotypes.

@en

P2093

Cristiane Ayres Ferreira

http://www.w3.org/2001/XMLSchema#string

Daniel Onofre Vidal

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Greice Andreotti De Molfetta

http://www.w3.org/2001/XMLSchema#string

Liane de Rosso Giuliani

http://www.w3.org/2001/XMLSchema#string

Maria José Maldonado

http://www.w3.org/2001/XMLSchema#string

Wilson Araujo Silva

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P2860

UBE3A/E6-AP mutations cause Angelman syndrome

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

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling

Methylation-sensitive high resolution melting (MS-HRM): a new approach for sensitive and high-throughput assessment of methylation

The spectrum of mutations in UBE3A causing Angelman syndrome

Neurological aspects of the Angelman syndrome

The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.

High-resolution genotyping by amplicon melting analysis using LCGreen.

Mutation analysis of UBE3A in Angelman syndrome patients.

Linkage analysis in familial Angelman syndrome.

P2888

1471-2350-13-124

P304

124

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P31

scholarly article

case report

P356

10.1186/1471-2350-13-124

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P478

http://www.w3.org/2001/XMLSchema#string

P577

2012-12-20T00:00:00Z

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P5875

233963155

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P6179

1030092863

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P698

23256887

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P921

sibling

P932

3543165

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