Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder with genetic heterogeneity. Up to three loci are involved in this disease, PKD1 on chromosome 16p13.3, PKD2 on 4q21, and a third locus of unknown location. Here we report the existence of locus heterogeneity for this disea...

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Detalles Bibliográficos
Autores principales: Iglesias, D.M., Martín, R.S., Fraga, A., Virginillo, M., Kornblihtt, A.R., Arrizurieta, E., Viribay, M., San Millán, J.L., Herrera, M., Bernath, V.
Formato: JOUR
Materias:
Genetic heterogeneity
Linkage analysis
Polycystic kidney disease
argentina
article
autosomal dominant inheritance
chromosome 16p
chromosome 4q
clinical study
controlled study
dna determination
female
gene location
gene locus
gene mapping
genetic association
genetic heterogeneity
genetic linkage
human
human cell
kidney disease
kidney polycystic disease
major clinical study
male
molecular cloning
phenotype
priority journal
Adolescent
Adult
Argentina
Child
Child, Preschool
European Continental Ancestry Group
Female
Genetic Heterogeneity
Humans
Infant
Linkage (Genetics)
Male
Membrane Proteins
Pedigree
Polycystic Kidney, Autosomal Dominant
Proteins
TRPP Cation Channels
Acceso en línea:http://hdl.handle.net/20.500.12110/paper_00222593_v34_n10_p827_Iglesias
Aporte de:
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

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