Mutation Analysis of the Entire PKD1 Gene: Genetic and Diagnostic Implications

Author:

Rossetti Sandro,Strmecki Lana,Gamble Vicki,Burton Sarah,Sneddon Vicky,Peral Belén,Roy Sushmita,Bakkaloglu Aysin,Komel Radovan,Winearls Christopher G.,Harris Peter C.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference71 articles.

1. DNA structural transitions within the PKD1 gene;Blaszak;Nucleic Acids Res,1999

2. Polycystin-L is a calcium-regulated cation channel permeable to calcium ions;Chen;Nature,1999

3. The nature and mechanisms of human gene mutation;Cooper,1995

4. RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer;Culbertson;Trends Genet,1999

5. Bilateral polycystic disease of the kidneys: a follow-up of two hundred and eighty-four patients and their families;Dalgaard;Acta Med Scand Suppl,1957

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