| Three new structural variants of fetal hemoglobin: Hb F-Campinas [Agamma g121(GH4)Glu --> Gln], Hb F-Paulinia [Ggamma 80(EF4)Asp --> Tyr] and Hb F-Joanopolis [Ggamma73(E17) Asp -->Ala]. | |
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MedLine Citation:
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PMID: 14607761 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Three new structural variants of fetal hemoglobin were detected in newborns during a neonatal screening for Hb S in the southeast of Brazil: Hb F-Campinas [AgammaI121 (GH4)Glu --> Gln], Hb F-Paulinia [Ggamma80(EF4)Asp -->Tyr] and Hb F-Joanopolis [Ggamma73(E17) Asp -->Ala]. These variants were not related to clinical abnormalities |
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Authors:
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Denise Faustino Duarte; Dulcinéia Martins Albuquerque; Vitoria Regia Pereira Pinheiro; Fernando Ferreira Costa; Maria De Fátima Sonati |
Publication Detail:
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Type: Letter; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Haematologica Volume: 88 ISSN: 1592-8721 ISO Abbreviation: Haematologica Publication Date: 2003 Nov |
Date Detail:
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Created Date: 2003-11-10 Completed Date: 2004-02-24 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0417435 Medline TA: Haematologica Country: Italy |
Other Details:
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Languages: eng Pagination: 1316-7 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amino Acid Sequence Amino Acid Substitution Codon / genetics DNA Mutational Analysis Female Fetal Hemoglobin / chemistry, genetics* Globins / genetics* Hemoglobins, Abnormal / chemistry, genetics* Humans Infant, Newborn Male Molecular Sequence Data Mutation, Missense Neonatal Screening Point Mutation Sequence Analysis, DNA |
| Chemical | |
Reg. No./Substance:
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0/Codon; 0/Hemoglobins, Abnormal; 0/hemoglobin F Campinas; 0/hemoglobin F Joanopolis; 0/hemoglobin F Paulinia; 9004-22-2/Globins; 9034-63-3/Fetal Hemoglobin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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