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The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel m...

The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel m...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_00535006v1

The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the gene promoter

About this item

Full title

The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the gene promoter

Publisher

Springer Verlag

Journal title

Annals of hematology, 2008-12, Vol.88 (6), p.549-555

Language

English

Formats

Publication information

Publisher

Springer Verlag

More information

Scope and Contents

Contents

Nondeletional hereditary persistence of fetal hemoglobin (nd-HPFH), a rare hereditary condition resulting in elevated levels of fetal hemoglobin (Hb F) in adults, is associated with promoter mutations in the human fetal globin ( and ) genes. In this paper, we report a novel type of nd-HPFH due to a gene promoter mutation (:g.-109G>T). This mutation...

Alternative Titles

Full title

The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the gene promoter

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_hal_primary_oai_HAL_hal_00535006v1

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_00535006v1

Other Identifiers

ISSN

0939-5555

E-ISSN

1432-0584

DOI

10.1007/s00277-008-0643-0

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