Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification. - Wikidata - wikimedia - TriplyDB

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.

http://www.wikidata.org/entity/Q34026854

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A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection.Analysis of candidate colitis genes in the Gdac1 locus of mice deficient in glutathione peroxidase-1 and -2.A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012.Aortic dilation, genetic testing, and associated diagnoses.Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event.

P2860

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P2860

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.

http://www.wikidata.org/entity/Q34026854

description

2011 nî lūn-bûn

@nan

2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Characterization of large geno ...... dependent probe amplification.

@ast

Characterization of large geno ...... dependent probe amplification.

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Characterization of large geno ...... dependent probe amplification.

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type

label

Characterization of large geno ...... dependent probe amplification.

@ast

Characterization of large geno ...... dependent probe amplification.

@en

Characterization of large geno ...... dependent probe amplification.

@nl

prefLabel

Characterization of large geno ...... dependent probe amplification.

@ast

Characterization of large geno ...... dependent probe amplification.

@en

Characterization of large geno ...... dependent probe amplification.

@nl

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1471-2350-12-119

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BMC Medical Genetics

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Characterization of large geno ...... dependent probe amplification.

@en

P2093

Alan F Rope

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Angela T Yetman

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Larissa V Furtado

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Parker Plant

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Pinar Bayrak-Toydemir

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Tracey Lewis

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Whitney Wooderchak-Donahue

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P2860

Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

Mutations in NOTCH1 cause aortic valve disease

Multi-exon deletions of the FBN1 gene in Marfan syndrome

The revised Ghent nosology for the Marfan syndrome

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

The clinical spectrum of complete FBN1 allele deletions.

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.

Thoracic aortic aneurysms.

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.

P2888

1471-2350-12-119

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119

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scholarly article

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10.1186/1471-2350-12-119

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12

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51660700

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1014592162

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21936929

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3196690

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