Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by 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. Since the identification of the PKD1 gene, the interes...

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Detalles Bibliográficos
Autores principales: Iglesias, D.M., Manrique, M., Arrizurieta, E.E., Kornblihtt, A.R., Herrera, M., Martin, R.S., Bernath, V.A.
Formato: JOUR
Materias:
Mutational analysis
Novel PKD1 mutation
PKD1
Polycystic kidney disease type 1
polycystic kidney disease 1 protein
polycystin
protein
adolescent
adult
article
DNA sequence
genetic linkage
genetics
human
kidney polycystic disease
mutation
newborn
stop codon
Adolescent
Adult
Codon, Terminator
Humans
Infant, Newborn
Linkage (Genetics)
Mutation
Polycystic Kidney, Autosomal Dominant
Proteins
Sequence Analysis, DNA
TRPP Cation Channels
Acceso en línea:http://hdl.handle.net/20.500.12110/paper_00257680_v59_n2_p133_Iglesias
Aporte de:
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

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