Two New β0-Thalassemic Mutations: A Deletion (−CC) at Codon 142 or Overlapping Codons 142-143, and an Insertion (+T) at Codon 45 or Overlapping Codons 44-45/45-46 of the β-Globin Gene

Autor:	Martine Aubry, Philippe Lacan, Alain Francina, Nicole Couprie
Rok vydání:	2007
Předmět:	Silent mutation congenital hereditary and neonatal diseases and abnormalities Molecular Sequence Data Clinical Biochemistry Nonsense mutation β globin gene Biology Polymerase Chain Reaction Frameshift mutation Humans Nucleotide Amino Acid Sequence Child Codon Frameshift Mutation Genetics (clinical) Aged DNA Primers Sequence Deletion chemistry.chemical_classification Genetics beta-Thalassemia Biochemistry (medical) Hematology Molecular biology Phenotype Stop codon Globins Mutagenesis Insertional chemistry Codon usage bias Mutation Female
Zdroj:	Hemoglobin. 31:159-165
ISSN:	1532-432X 0363-0269
Popis:	We report here two new beta(0)-thalassemic mutations. In the first case, a deletion of two nucleotides (-CC) at codon 142 was found in a French Caucasian woman. In the second case, an insertion of a single nucleotide (+T) at codon 45 was found in a Turkish girl. In both cases, no dominant thalassemia-like phenotype was observed.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bc52b448952c99fc5608eb95e946843 https://doi.org/10.1080/03630260701277057 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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