A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-5945
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report ; volume:19 ; number:1 ; day:31 ; month:1 ; year:2019 ; pages:1-5 ; date:12.2019
BMC dermatology ; 19, Heft 1 (31.1.2019), 1-5, 12.2019
- Creator
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Okuneva, E. G.
Kozina, A. A.
Baryshnikova, N. V.
Krasnenko, A. Yu
Tsukanov, K. Yu
Klimchuk, O. I.
Surkova, E. I.
Ilinsky, V. V.
- Contributor
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SpringerLink (Online service)
- DOI
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10.1186/s12895-019-0084-6
- URN
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urn:nbn:de:101:1-2019030622453900787956
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
22.05.20252025, 6:52 PM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Okuneva, E. G.
- Kozina, A. A.
- Baryshnikova, N. V.
- Krasnenko, A. Yu
- Tsukanov, K. Yu
- Klimchuk, O. I.
- Surkova, E. I.
- Ilinsky, V. V.
- SpringerLink (Online service)
Other Objects (12)
FMCGP: frameshift mutation cartesian genetic programming
The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up
Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers
Muir-Torre-Syndrom mit bisher nicht beschriebener Frameshift-Mutation im MSH2-Gen
Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia
Cutis.
A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle
A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis
A natural frameshift mutation in Campanula EIL2 correlates with ethylene insensitivity in flowers
Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation
Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12
El cutis
FMCGP: frameshift mutation cartesian genetic programming
The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up
Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers
Muir-Torre-Syndrom mit bisher nicht beschriebener Frameshift-Mutation im MSH2-Gen
Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia
Cutis.
A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle
A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis
A natural frameshift mutation in Campanula EIL2 correlates with ethylene insensitivity in flowers
Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation
Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12
El cutis
FMCGP: frameshift mutation cartesian genetic programming
The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up
Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers
Muir-Torre-Syndrom mit bisher nicht beschriebener Frameshift-Mutation im MSH2-Gen
Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia
Cutis.
A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle
A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis
A natural frameshift mutation in Campanula EIL2 correlates with ethylene insensitivity in flowers
Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation
Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12