Hemoglobin Neapolis, beta 126(H4)Val>Gly: a novel beta-chain variant associated with a mild beta-thalassemia phenotype and displaying anomalous stability features. (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Hemoglobin Neapolis, beta 126(H4)Val>Gly: a novel beta-chain variant associated with a mild beta-thalassemia phenotype and displaying anomalous stability features. (Articolo in rivista) (literal)

Anno

• 1991-01-01T00:00:00+01:00 (literal)

Alternative label

• Pagano L, Lacerra G, Camardella L, De Angioletti M, Fioretti G, Maglione G, de Bonis C, Guarino E, Viola A, Cutolo R, De Rosa L, and Carestia C (1991)
  Hemoglobin Neapolis, beta 126(H4)Val>Gly: a novel beta-chain variant associated with a mild beta-thalassemia phenotype and displaying anomalous stability features.
  in Blood
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Pagano L, Lacerra G, Camardella L, De Angioletti M, Fioretti G, Maglione G, de Bonis C, Guarino E, Viola A, Cutolo R, De Rosa L, and Carestia C (literal)

Pagina inizio

• 3070 (literal)

Pagina fine

• 3075 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

• http://bloodjournal.hematologylibrary.org/content/78/11/3070.full.pdf+html (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 78 (literal)

Rivista

• Blood (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

• 6 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 11 (literal)

Note

• PubMe (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• International Institute of Genetics and Biophysics, CNR, Via Guglielmo Marconi, 10, Naples , Italy Centro Microcitemia, Ospedale A. Cardarelli, Naples, Italy Institute of Protein Biochemistry and Enzymology, CNR, Via Guglielmo Marconi, 10, Naples, Italy (literal)

Titolo

• Hemoglobin Neapolis, beta 126(H4)Val>Gly: a novel beta-chain variant associated with a mild beta-thalassemia phenotype and displaying anomalous stability features. (literal)

Abstract

• A novel beta-chain, beta 126(H4)Val----Gly, electrophoretically silent, was detected by reverse-phase high performance liquid chromatography in three unrelated families from Naples (Southern Italy) and accounted for about 30% of the total beta-chains. The amino acid substitution was detected by HPLC fingerprint. The eight heterozygous patients showed hematologic and biosynthetic alterations of mild beta-thalassemia type. The hemoglobin variant showed abnormal stability features. It was unstable in the heat stability and isopropanol precipitation tests, but did not cause a hemolytic syndrome in vivo and was stable in a time-course experiment of biosynthesis in vitro. DNA polymerase chain reaction direct sequencing of the mutated gene from 135 nt upstream of the cap site to 106 nt downstream of the polyadenylation site showed only the beta 126 GTG----GGG mutation, which was confirmed in the other patients by allele-specific oligonucleotide hybridization. The mutation was found to be associated with a type II beta-globin framework and restriction fragment length polymorphism haplotype V. The novel variant was named hemoglobin Neapolis. (literal)

Prodotto di

• Istituto di genetica e biofisica \"Adriano Buzzati Traverso\" (IGB) (Istituto)

Autore CNR

• GIUSEPPINA LACERRA (Unità di personale interno)
• MARIA DE ANGIOLETTI (Unità di personale interno)
• CLEMENTINA CARESTIA (Unità di personale esterno)

Incoming links:

Prodotto

• Istituto di genetica e biofisica \"Adriano Buzzati Traverso\" (IGB) (Istituto)

Autore CNR di

• CLEMENTINA CARESTIA (Unità di personale esterno)
• MARIA DE ANGIOLETTI (Unità di personale interno)
• GIUSEPPINA LACERRA (Unità di personale interno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Blood (Rivista)