Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature ; volume:11 ; number:1 ; day:8 ; month:10 ; year:2010 ; pages:1-5 ; date:12.2010
BMC medical genetics ; 11, Heft 1 (8.10.2010), 1-5, 12.2010

Creator: Truong, Hoa T.

Contributor: Dudding, Tracy
Blanchard, Christopher L.
Elsea, Sarah H.
SpringerLink (Online service)

DOI: 10.1186/1471-2350-11-142

URN: urn:nbn:de:1111-2016071511551

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:52 AM CEST

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Truong, Hoa T.
Dudding, Tracy
Blanchard, Christopher L.
Elsea, Sarah H.
SpringerLink (Online service)

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Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

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Other Objects (12)

FMCGP: frameshift mutation cartesian genetic programming

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A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis

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Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia

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A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle

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Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation

MSEA: detection and quantification of mutation hotspots through mutation set enrichment analysis

FMCGP: frameshift mutation cartesian genetic programming

Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy

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