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Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/25252
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dc.date.accessioned2018-01-02T11:18:45Z-
dc.date.available2018-01-02T11:18:45Z-
dc.date.issued2009-
dc.identifier.citationBorg, J., Phylactides, M., Grech, G., Scerri, C.A., Cassar, A., Galdies, R.,…Felice, A.E. (2009). Candidate molecular regulators of developmental globin gene switching. Conference: 7th Malta Medical School Conference. In Malta Medical Journal, 21, (Suppl.), p39. H5.en_GB
dc.identifier.urihttps://www.um.edu.mt/library/oar//handle/123456789/25252-
dc.description.abstractA rare and unique Maltese family consisting of 10 family members with high levels of foetal haemoglobin (HbF ~3.5% to 20%) together with the HbF variant; Hb F Malta I [alpha2Ggamma2 117(G19)His>Arg] + Hb Valletta [alpha2beta2 87(f3)Thr>Pro] and 19 family members with normal levels of foetal haemoglobin (HbF <1.0%), spanning 4 generations was identified from testing Programs done at the Laboratory of Molecular Genetics, University of Malta in conjunction with the Thalassaemia and Molecular Genetics Clinic, Mater Dei Hospital, Malta. Extensive molecular haplotyping and DNA sequencing across the beta globin locus was carried out as explained in http://www.ithanet.eu/ mutation/LabProtocols.aspx. Human Erythroid Progenitor cells were isolated and cultured from 30mls of peripheral whole blood from 15 members of the family.en_GB
dc.language.isoenen_GB
dc.publisherUniversity of Malta Medical Schoolen_GB
dc.rightsinfo:eu-repo/semantics/openAccessen_GB
dc.subjectMolecular genetics -- Malta -- Case studiesen_GB
dc.subjectFetal hemoglobinen_GB
dc.titleCandidate molecular regulators of developmental globin gene switchingen_GB
dc.typearticleen_GB
dc.rights.holderThe copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder.en_GB
dc.bibliographicCitation.conferencename7th Malta Medical School Conferenceen_GB
dc.bibliographicCitation.conferenceplaceMalta, 5-7/11/2009en_GB
dc.description.reviewedN/Aen_GB
dc.publication.titleMalta Medical Journalen_GB
dc.contributor.creatorBorg, Joseph J.-
dc.contributor.creatorPhylactides, Marios-
dc.contributor.creatorGrech, Godfrey-
dc.contributor.creatorScerri, Christian A.-
dc.contributor.creatorCassar, Wilhelmina-
dc.contributor.creatorGaldies, Ruth-
dc.contributor.creatorLindern, Marieke von-
dc.contributor.creatorIjcken, Wilfred van-
dc.contributor.creatorHo, Jun-
dc.contributor.creatorPhilipsen, Sjaak-
dc.contributor.creatorGrosveld, Frank-
dc.contributor.creatorPatrinos, George P.-
dc.contributor.creatorFelice, Alex-
Appears in Collections:Scholarly Works - FacHScABS
Scholarly Works - FacM&SPat

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