Neonatal cyanosis due to a new (G)Î³-globin variant causing low oxygen affinity: Hb F-Sarajevo [(G)Î³102(G4)AsnâThr, AAC>ACC].

Zimmermann-Baer, Urs; Capalo, Ralph; Dutly, Fabrizio; Saller, Elisabeth; Troxler, Heinz; Kohler, Malcolm; Frischknecht, Hannes

Neonatal cyanosis due to a new (G)Î³-globin variant causing low oxygen affinity: Hb F-Sarajevo [(G)Î³102(G4)AsnâThr, AAC>ACC].

Zimmermann-Baer, Urs; Capalo, Ralph; Dutly, Fabrizio; Saller, Elisabeth; Troxler, Heinz; Kohler, Malcolm; Frischknecht, Hannes.

Affiliation

Zimmermann-Baer U; Clinic of Neonatology, Department of Pediatrics, Cantonal Hospital Winterthur, Winterthur, Switzerland.

Hemoglobin ; 36(2): 109-13, 2012.

Article in En | MEDLINE | ID: mdl-22384797

Subject(s)

Cyanosis/genetics; Fetal Hemoglobin/genetics; Oxygen/metabolism; Point Mutation; gamma-Globins/genetics; Base Sequence; Cyanosis/diagnosis; Cyanosis/metabolism; DNA Mutational Analysis; Female; Hemoglobins, Abnormal/genetics; Humans; Infant, Newborn; Molecular Sequence Data; Sequence Homology, Amino Acid

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Oxygen / Fetal Hemoglobin / Point Mutation / Cyanosis / Gamma-Globins Type of study: Diagnostic_studies Limits: Female / Humans / Newborn Language: En Journal: Hemoglobin Year: 2012 Document type: Article Affiliation country: Switzerland

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