Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein. - Wikidata - wikimedia - TriplyDB

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

http://www.wikidata.org/entity/Q33373164

about

TBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotype Holt Oram syndrome: a registry-based study in Europe.A case report on holt-oram syndrome (heart-hand).Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.Dedifferentiation and the role of sall4 in reprogramming and patterning during amphibian limb regeneration.A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene.SALL4 as a transcriptional and epigenetic regulator in normal and leukemic hematopoiesis.

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P2860

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

http://www.wikidata.org/entity/Q33373164

description

2008 nî lūn-bûn

@nan

2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2008年の論文

@ja

2008年論文

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2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

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2008年論文

@zh-tw

2008年论文

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name

Functional analysis of the nov ...... g in an extended TBX5 protein.

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Functional analysis of the nov ...... g in an extended TBX5 protein.

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type

label

Functional analysis of the nov ...... g in an extended TBX5 protein.

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Functional analysis of the nov ...... g in an extended TBX5 protein.

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prefLabel

Functional analysis of the nov ...... g in an extended TBX5 protein.

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Functional analysis of the nov ...... g in an extended TBX5 protein.

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BMC Medical Genetics

P1476

Functional analysis of the nov ...... ng in an extended TBX5 protein

@en

P2093

Alexander Craig

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

Britt-Marie Ekman-Joelsson

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

Jürgen Kohlhase

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

Mihailo Vujic

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

Ursula Froster

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

Wolfram Heinritz

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

P2860

The T-box family

Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation

TBX5 nuclear localization is mediated by dual cooperative intramolecular signals

A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome

Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome

Detection of a large TBX5 deletion in a family with Holt-Oram syndrome

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88

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scholarly article

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10.1186/1471-2350-9-88

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9

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2008-10-01T00:00:00Z

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23293567

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1015004454

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18828908

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2567295

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