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Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity
- Source :
- Haematologica. 103:e561-e563
- Publication Year :
- 2018
- Publisher :
- Ferrata Storti Foundation (Haematologica), 2018.
- Subjects :
- Male
0301 basic medicine
medicine.medical_specialty
Adolescent
Anemia
DNA Mutational Analysis
Mutation, Missense
DNA, Mitochondrial
Gastroenterology
03 medical and health sciences
Recurrence
Internal medicine
Humans
Point Mutation
Medicine
Missense mutation
Clinical severity
In patient
Child
Online Only Articles
Genetic Association Studies
biology
business.industry
Point mutation
Infant
Genetic Diseases, X-Linked
Syndrome
Hematology
Mitochondrial Proton-Translocating ATPases
medicine.disease
Heteroplasmy
Anemia, Sideroblastic
030104 developmental biology
Mutation (genetic algorithm)
MT-ATP6
biology.protein
Female
business
Subjects
Details
- ISSN :
- 15928721 and 03906078
- Volume :
- 103
- Database :
- OpenAIRE
- Journal :
- Haematologica
- Accession number :
- edsair.doi.dedup.....df51351b1f885469ad223650524c8520
- Full Text :
- https://doi.org/10.3324/haematol.2018.199109