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Hb G-Miwlo [α64(E13)ASP→ASN] observed in a Caucasian family

Manca, Laura and Masala, Bruno Lucio and Manca, M. and Ferranti, Pasquale and Pucci, Pietro (1994) Hb G-Miwlo [α64(E13)ASP→ASN] observed in a Caucasian family. Hemoglobin, Vol. 18 (1), p. 53-56. eISSN 1532-432X. Article.

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DOI: 10.3109/03630269409014145

Abstract

Hb G-Waimanalo or α64(E13)Asp→Asn was first discovered in 1973 in a male of Filipino ancestry (l), and later reported in Japanese and Filipino families (2-5). The same mutation was also detected in a family of Arabian origin as Hb Aida (6). It is a slow-moving variant in electrophoresis at alkaline pH, and cathodal in isoelectrofocusing (IEF) (3), which has been shown to be synthesized at a normal rate, to be stable in the isopropanol test, and to have a normal oxygen affinity (2,3). In this paper we describe the occurrence of the variant in a Caucasian family.

Item Type:Article
ID Code:3088
Status:Published
Refereed:Yes
Uncontrolled Keywords:Hb G-Waimanalo, mutation, variant occurrence
Subjects:Area 05 - Scienze biologiche > BIO/10 Biochimica
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze fisiologiche, biochimiche e cellulari
002 Altri enti e centri di ricerca del Nord Sardegna > Azienda ASL1, Sassari
Publisher:Taylor & Francis
eISSN:1532-432X
Deposited On:05 Oct 2009 11:59

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