Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations
ContributorsDucamp, Sarah; Kannengiesser, Caroline; Touati, Mohamed; Garçon, Loïc; Guerci-Bresler, Agnès; Guichard, Jean François; Vermylen, Christiane; Dochir, Joaquim; Poirel, Hélène A; Fouyssac, Fanny; Mansuy, Ludovic; Leroux, Geneviève; Tertian, Gérard; Girot, Robert; Heimpel, Hermann; Matthes, Thomas; Talbi, Neila; Deybach, Jean-Charles; Beaumont, Carole; Puy, Hervé; Grandchamp, Bernard
Published inHuman Mutation, vol. 32, no. 6, p. 590-597
Publication date2011
Abstract
Keywords
- 5-Aminolevulinate Synthetase/genetics
- Adult
- Amino Acid Substitution
- Anemia
- Sideroblastic/genetics
- Child
- Female
- Gene Expression
- Genetic Diseases
- X-Linked
- Heme/biosynthesis/genetics
- Humans
- Infant
- Iron/metabolism
- Male
- Middle Aged
- Mutation
- Missense
- Protein Conformation
- Protoporphyrins/genetics
- X Chromosome Inactivation
Affiliation
Citation (ISO format)
DUCAMP, Sarah et al. Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. In: Human Mutation, 2011, vol. 32, n° 6, p. 590–597. doi: 10.1002/humu.21455
Main files (1)
Article (Published version)
Identifiers
- PID : unige:100196
- DOI : 10.1002/humu.21455
- PMID : 21309041
ISSN of the journal1059-7794