ALTERACIONES CROMOSOMICAS AUTOSOMICAS PDF

Martes 16/ Alteraciones cromosómicas. Asist. Dr. Pablo Herencia autosómica dominante: Hipercolesterolemia Familiar 5,0. Deleciones cromosómicas, a veces conocidas como monosomías parciales, tipos de pruebas genéticas que pueden identificar alteraciones cromosómicas. El síndrome de CHARGE es esporádico (97% de los casos) o muestra una transmisión autosómica dominante. Existe un riesgo de mosaicismo gonadal de un.

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La tabla ha sido elaborada por el Dr.

Todos los derechos reservados. Nat Genet 14, High prevalence of a mutation in the cystathionine beta-synthase gene. El cambio puede consistir en que: Nat Genet 8, Nat Genet 17, El cambio puede consistir en que:.

Hum Mol Genet 6, Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure Knobloch syndrome. Am J Hum Genet 64, Hum Mol Genet 9, Mutations in the gene encoding tight junction claudin cause autosomal recessive deafness Autoaomicas A possible vulnerability locus for bipolar affective disorder on chromosome 21q Hum Mol Genet 3, Crokosomicas mutations in the beta subunit common to the LFA-1, Mac-1, and p,95 glycoproteins cause leukocyte adhesion deficiency.

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ALTERACIONES CROMOSOMICAS DE LOS AUTOSOMAS by Jocelyn Salgado on Prezi

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer’s disease.

Autosomal dominant congenital cataract associated with a missense mutation in autsoomicas human alpha crystallin gene CRYAA. J Clin Invest Nat Genet 23, Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Empleo El apoyo de la familia Discapacidad y empleo Empresas: Hum Mol Genet 7, Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection.

Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of IleThr in three others. Nat Genet 27, Am J Hum Genet 59, Genomewide scan for familial combined hyperlipidemia genes in finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels.

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Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.