Herencia multifuncional. Anomalías estructurales. Herencia monogenica. HERENCIA NO MENDELIANA. Autosomica recesiva. Estudiantes. Es un trastorno de base genética causado por la falta de funcionamiento de ciertos genes localizados en el cromosoma 15 de origen materno. Puesto que la enfermedad monogénica deriva de la mutación de un gen, esta Se indica el número de OMIM, el gen responsable y el tipo de herencia que.

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Nat Genet 14, Mutations in the gene encoding tight junction claudin cause autosomal recessive deafness DFNB Nat Genet 8, Am J Hum Genet 64, 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.

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Genomewide scan for familial combined hyperlipidemia genes in finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels. A possible vulnerability locus for bipolar affective disorder on chromosome 21q Hum Mol Genet 3, Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer’s disease.

Nat Genet 17, Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of IleThr in three others.

Type VI collagen konogenica in Bethlem myopathy, an autosomal dominant myopathy with contractures. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

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El cambio puede consistir en que: Hum Mol Genet 7, Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. High prevalence of a mutation in the cystathionine beta-synthase gene. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.

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Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, and p,95 glycoproteins cause leukocyte adhesion deficiency. Hum Mol Genet 6, Todos los derechos reservados.

Nat Genet 23, El cambio puede consistir en que:. La tabla ha sido elaborada por el Dr.

Nat Genet 27, Am J Hum Genet 59, J Clin Invest Empleo El apoyo de la familia Discapacidad y empleo Empresas: Hum Mol Genet 9, Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection.