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Ataxia telangiectasia — Saltar a navegación, búsqueda Ataxia telangiectasia Clasificación y recursos externos Aviso médico CIE 10 … Wikipedia Español
ataxia telangiectasia — f. neurol. Enfermedad hereditaria autosómica de carácter recesivo que produce ataxia cerebelosa, telangiectasias cutáneas y trastornos oculares e inmunológicos. Medical Dictionary. 2011 … Diccionario médico
ataxia-telangiectasia — Enfermedad genética infrecuente que afecta al metabolismo de las inmunoglobulinas y que se transmite con carácter autosómico recesivo. Suele comenzar en la infancia y progresa lentamente, produciéndose una degeneración cerebelosa progresiva, con… … Diccionario médico
Ataxia telangiectasia — Infobox Disease Name = Ataxia Telangiectasia Caption = DiseasesDB = 1025 ICD10 = ICD10|G|11|3|g|10 ICD9 = ICD9|334.8 ICDO = OMIM = 208900 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 691 eMedicine mult = eMedicine2|oph|319 MeshID = D001260 … Wikipedia
ataxia-telangiectasia — See ataxia telangiectasia. * * * an autosomal recessive disorder caused by mutations in the ATM gene (locus: 11q22.3), which is involved in a number of biological functions, including DNA repair and cell cycle control. It is characterized by… … Medical dictionary
Ataxia telangiectasia — La ataxia telangiectasia es una enfermedad progresiva, multisistémica de transmisión autosómico recesiva, caracterizada por: ● Degeneración del cerebelo (y del sistema nervioso en general) ● Inmunodeficiencia ● Radiosensibilidad ● Predisposisción … Enciclopedia Universal
Ataxia telangiectasia and Rad3 related — Identifiers Symbols ATR; FRP1; MEC1; SCKL; SCKL1 External IDs … Wikipedia
Ataxia telangiectasia mutated — (ATM) is a serine/threonine specific protein kinase (EC number|2.7.11.1) that is recruited and activated by DNA double strand breaks. It phosphorylates several key proteins that initiate activation of the DNA damage checkpoint, leading to cell… … Wikipedia
ataxia-telangiectasia syndrome — ataxia telangiectasia; see under ataxia … Medical dictionary
ataxia telangiectasia — Louis Bar syndrome; a hereditary autosomal recessive disease in humans characterized by a high frequency of spontaneous chromosomal aberrations, neurological deterioration and susceptibility to various cancers. Ataxia: imbalance of muscle… … Dictionary of molecular biology
ataxia telangiectasia — an inherited (autosomal recessive) neurological disorder. ataxia is usually noted early in life. Mental retardation, growth retardation, abnormal eye movements, skin lesions, and immune deficiency may be found. Affected individuals may develop… … Medical dictionary
