Two new hemoglobin variants: Hb Sinai-Greenspring [beta34(B16)Val--Ile, GTCATC] and Hb Sinai-Bel Air [beta53(D4)Ala--Asp, GCTGAT]

Autor:	Erin, Dainer, Robert E, Wenk, Ruth, Luddy, Dedrey, Elam, Leslie, Holley, Abdullah, Kutlar, Ferdane, Kutlar
Rok vydání:	2008
Předmět:	Male Aspartic Acid Alanine Base Sequence Molecular Sequence Data Infant Valine beta-Globins Amino Acid Substitution Child Preschool Mutation Humans Isoleucine Chromatography High Pressure Liquid
Zdroj:	Hemoglobin. 32(6)
ISSN:	1532-432X
Popis:	Neonatal screening for hemoglobinopathies occasionally results in the detection of novel hemoglobin (Hb) variants. Two heterozygous infants were found with different beta chain mutations, neither of which produced obvious clinical or laboratory abnormalities on routine examinations. The variants were characterized by cation exchange high performance liquid chromatography (HPLC), reversed phase HPLC, and sequencing of amplified beta-globin genes. Functional studies could not be performed at this time.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::f3875d9ff0af77e89a24d7a907ddfebc https://pubmed.ncbi.nlm.nih.gov/19065337 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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