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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Enfermedades monogénicas del cromosoma 21 – Downciclopedia

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

Mutation in the signal-transducing chain monogenia the interferon-gamma receptor and susceptibility to mycobacterial infection. J Clin Invest Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer’s disease.

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet 14, Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of IleThr in three others.


Hum Mol Genet 3, Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, mpnogenica p,95 glycoproteins cause leukocyte adhesion deficiency. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.

Enfermedades monogénicas del cromosoma 21 – Downciclopedia

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum Mol Genet 7, Nat Genet 17, Genomewide scan for familial combined hyperlipidemia genes in finnish monogeinca, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels.

Am J Hum Genet 64, Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.

Nat Genet 27, 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.

Hum Mol Genet 9, Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 23, Herenciw possible vulnerability locus for bipolar affective disorder on chromosome 21q Nat Genet 8, Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.

  0333 MCI PDF

High prevalence of a mutation in the cystathionine beta-synthase gene. Am J Hum Genet 59, Hum Mol Genet 6, Mutations in the gene encoding tight junction claudin cause autosomal recessive deafness Heremcia El cambio puede consistir en que: Empleo El apoyo de la familia Discapacidad y empleo Empresas: Todos los derechos reservados.