Ataxia-Telangiectasia

M. Scavina

doi:10.1016/B978-0-12-374105-9.00156-8

Ataxia-Telangiectasia

M. Scavina

Producción científica › revisión exhaustiva

1 Cita (Scopus)

Resumen

Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by progressive cerebellar ataxia, predisposition to sinus and respiratory infections, and an increased risk of malignancies. In 1995, the gene for AT was discovered and is known as the AT-mutated (ATM) gene. Mutations in the gene cause abnormalities in DNA stability.

Idioma original	English
Título de la publicación alojada	Encyclopedia of Movement Disorders
Editorial	Elsevier Inc.
Páginas	91-93
Número de páginas	3
ISBN (versión digital)	9780123741059
ISBN (versión impresa)	9780123741011
DOI	https://doi.org/10.1016/B978-0-12-374105-9.00156-8
Estado	Published - 1 ene 2010

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title = "Ataxia-Telangiectasia",

abstract = "Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by progressive cerebellar ataxia, predisposition to sinus and respiratory infections, and an increased risk of malignancies. In 1995, the gene for AT was discovered and is known as the AT-mutated (ATM) gene. Mutations in the gene cause abnormalities in DNA stability.",

keywords = "ATM gene, Ataxia, Cerebellum, Choreoathetosis, DNA damage, Dystonia, Ionizing radiation, Malignancy, Myoclonus, Oculomotor apraxia, Sinopulmonary infections, Telangiectasia",

author = "M. Scavina",

year = "2010",

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doi = "10.1016/B978-0-12-374105-9.00156-8",

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AB - Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by progressive cerebellar ataxia, predisposition to sinus and respiratory infections, and an increased risk of malignancies. In 1995, the gene for AT was discovered and is known as the AT-mutated (ATM) gene. Mutations in the gene cause abnormalities in DNA stability.

KW - ATM gene

KW - Ataxia

KW - Cerebellum

KW - Choreoathetosis

KW - DNA damage

KW - Dystonia

KW - Ionizing radiation

KW - Malignancy

KW - Myoclonus

KW - Oculomotor apraxia

KW - Sinopulmonary infections

KW - Telangiectasia

UR - https://www.scopus.com/pages/publications/85069882671

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DO - 10.1016/B978-0-12-374105-9.00156-8

M3 - Chapter

AN - SCOPUS:85069882671

SN - 9780123741011

SP - 91

EP - 93

BT - Encyclopedia of Movement Disorders

PB - Elsevier Inc.

ER -

Ataxia-Telangiectasia

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