Ataxia without telangiectasia revisited: Update on genetic findings in two brothers with an ataxia‐telangiectasia‐like disorder
Identifieur interne : 004867 ( Main/Exploration ); précédent : 004866; suivant : 004868Ataxia without telangiectasia revisited: Update on genetic findings in two brothers with an ataxia‐telangiectasia‐like disorder
Auteurs : Christine Klein [Allemagne] ; Grant S. Stewart [Royaume-Uni] ; Niall P. Quinn [Royaume-Uni] ; A. Malcolm. R. Taylor [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2001-07.
English descriptors
- KwdEn :
- Ataxia Telangiectasia (diagnosis), Ataxia Telangiectasia (genetics), Ataxia Telangiectasia Mutated Proteins, Cell Cycle Proteins, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 7, DNA Mutational Analysis, DNA-Binding Proteins (genetics), Diagnosis, Differential, Heterozygote Detection, Humans, Male, Protein-Serine-Threonine Kinases (genetics), Spinocerebellar Degenerations (diagnosis), Spinocerebellar Degenerations (genetics), Syndrome, Translocation, Genetic (genetics), Tumor Suppressor Proteins.
- MESH :
- chemical , genetics : DNA-Binding Proteins, Protein-Serine-Threonine Kinases.
- chemical : Ataxia Telangiectasia Mutated Proteins, Cell Cycle Proteins, Tumor Suppressor Proteins.
- diagnosis : Ataxia Telangiectasia, Spinocerebellar Degenerations.
- genetics : Ataxia Telangiectasia, Spinocerebellar Degenerations, Translocation, Genetic.
- Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 7, DNA Mutational Analysis, Diagnosis, Differential, Heterozygote Detection, Humans, Male, Syndrome.
Url:
DOI: 10.1002/mds.1136
Affiliations:
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Le document en format XML
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<term>Translocation, Genetic (genetics)</term>
<term>Tumor Suppressor Proteins</term>
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<term>Chromosomes, Human, Pair 7</term>
<term>DNA Mutational Analysis</term>
<term>Diagnosis, Differential</term>
<term>Heterozygote Detection</term>
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