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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
