Literature DB >> 10862097

Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1).

R Perrichot1, B Mercier, A Carre, J Cledes, C Ferec.   

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Year:  2000        PMID： 10862097     DOI： 10.1002/1098-1004(200006)15:6<582::AID-HUMU20>3.0.CO;2-B

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  5 in total

1.  High-resolution melt as a screening method in autosomal dominant polycystic kidney disease (ADPKD).

Authors:  Grazia Maria Virzì; Alice Bruson; Valentina Corradi; Fiorella Gastaldon; Massimo de Cal; Marta Donà; Dinna N Cruz; Maurizio Clementi; Claudio Ronco
Journal:  J Clin Lab Anal       Date:  2014-03-22       Impact factor: 2.352

2.  Structural model of the TRPP2/PKD1 C-terminal coiled-coil complex produced by a combined computational and experimental approach.

Authors:  Jiang Zhu; Yong Yu; Maximilian H Ulbrich; Ming-hui Li; Ehud Y Isacoff; Barry Honig; Jian Yang
Journal:  Proc Natl Acad Sci U S A       Date:  2011-06-03       Impact factor: 11.205

3.  Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.

Authors:  Berenice Reed; Kim McFann; William J Kimberling; York Pei; Patricia A Gabow; Karen Christopher; Eric Petersen; Catherine Kelleher; Pamela R Fain; Ann Johnson; Robert W Schrier
Journal:  Am J Kidney Dis       Date:  2008-07-21       Impact factor: 8.860

4.  PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

Authors:  Katja Vouk; Lana Strmecki; Jitka Stekrova; Jana Reiterova; Matjaz Bidovec; Petra Hudler; Anton Kenig; Simona Jereb; Irena Zupanic-Pajnic; Joze Balazic; Guido Haarpaintner; Bostjan Leskovar; Anton Adamlje; Antun Skoflic; Reina Dovc; Radovan Hojs; Radovan Komel
Journal:  BMC Med Genet       Date:  2006-01-23       Impact factor: 2.103

5.  New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

Authors:  Jitka Stekrova; Jana Reiterova; Stanislava Svobodova; Vera Kebrdlova; Petr Lnenicka; Miroslav Merta; Ondrej Viklicky; Milada Kohoutova
Journal:  BMC Med Genet       Date:  2009-08-17       Impact factor: 2.103
  5 in total

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