HbF-Lesvos: An HbF variant due to a novel Gγ mutation (:Gγ 75 ATA→ACA) detected in a Greek family

Autor:	George P. Patrinos, Olga Drakoulakou, Aphrodite Loutradi-Anagnostou, Manoussos N. Papadakis
Rok vydání:	1996
Předmět:	Genetics Mutation Biology medicine.disease_cause Molecular biology Polymorphism (computer science) hemic and lymphatic diseases Fetal hemoglobin medicine Globin Threonine Isoleucine Gene Peptide sequence Genetics (clinical)
Zdroj:	Human Genetics. 97:260-262
ISSN:	1432-1203 0340-6717
DOI:	10.1007/bf02265278
Popis:	A T→C substitution at position 402 of the Gγ globin gene results in an isoleucine to threonine substitution at codon 75 of the Gγ globin chain and the formation of HbF-Lesvos [α2Gγ2 75 (E19) Ile→Thr].
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::cb1414d1e9cf1921cd9f034ccf444b87 https://doi.org/10.1007/bf02265278 Zobrazit plný text záznamu Full text from SpringerLink