LymphedemaV1, Main, Exploration, bibRecord, 006B92

Candidate gene analysis in primary lymphedema.

Identifieur interne : 006B92 ( Main/Exploration ); précédent : 006B91; suivant : 006B93

Candidate gene analysis in primary lymphedema.

Auteurs : Robert E. Ferrell [États-Unis] ; Mark A. Kimak ; Elizabeth C. Lawrence ; David N. Finegold

Source :

Lymphatic research and biology [ 1539-6851 ] ; 2008.

RBID : pubmed:18564921

Descripteurs français

KwdFr :
- Analyse de mutations d'ADN, Dépistage génétique, Exons, Fréquence d'allèle, Humains, Introns, Lymphoedème (génétique), Mutation.
MESH :
- génétique : Lymphoedème.
- Analyse de mutations d'ADN, Dépistage génétique, Exons, Fréquence d'allèle, Humains, Introns, Mutation.

English descriptors

KwdEn :
- DNA Mutational Analysis, Exons, Gene Frequency, Genetic Testing, Humans, Introns, Lymphedema (genetics), Mutation.
MESH :
- genetics : Lymphedema.
- DNA Mutational Analysis, Exons, Gene Frequency, Genetic Testing, Humans, Introns, Mutation.

Abstract

Primary lymphedema, the accumulation of protein-rich fluid in the interstitial space, is the clinical manifestation of mutations involved in lymphatic development and function. Mutations in three genes, VEGFR3, FOXC2, and SOX18, cause primary lymphedema. However, mutations in these three genes only account for a fraction of primary lymphedema. To identify other genes mutated in primary lymphedema, we resequenced twenty-five biologically plausible candidate genes for lymphedema in a large collection of primary lymphedema families.

DOI: 10.1089/lrb.2007.1022
PubMed: 18564921

Affiliations:

Le document en format XML

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<author><name sortKey="Kimak, Mark A" sort="Kimak, Mark A" uniqKey="Kimak M" first="Mark A" last="Kimak">Mark A. Kimak</name>
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<author><name sortKey="Lawrence, Elizabeth C" sort="Lawrence, Elizabeth C" uniqKey="Lawrence E" first="Elizabeth C" last="Lawrence">Elizabeth C. Lawrence</name>
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<term>Fréquence d'allèle</term>
<term>Humains</term>
<term>Introns</term>
<term>Lymphoedème (génétique)</term>
<term>Mutation</term>
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<front><div type="abstract" xml:lang="en">Primary lymphedema, the accumulation of protein-rich fluid in the interstitial space, is the clinical manifestation of mutations involved in lymphatic development and function. Mutations in three genes, VEGFR3, FOXC2, and SOX18, cause primary lymphedema. However, mutations in these three genes only account for a fraction of primary lymphedema. To identify other genes mutated in primary lymphedema, we resequenced twenty-five biologically plausible candidate genes for lymphedema in a large collection of primary lymphedema families.</div>
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<name sortKey="Lawrence, Elizabeth C" sort="Lawrence, Elizabeth C" uniqKey="Lawrence E" first="Elizabeth C" last="Lawrence">Elizabeth C. Lawrence</name>
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<country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E" last="Ferrell">Robert E. Ferrell</name>
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Serveur d'exploration sur le lymphœdème

Candidate gene analysis in primary lymphedema.

Candidate gene analysis in primary lymphedema.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
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