PKD1 MUTATIONS IN SISTERS WITH SUSPECTED ARPKD

被引：0
|
作者：
Bjerre, Anna Kristina [1 ]
Bergmann, Carsten [1 ]
Gjerstad, Ann Christin [1 ]
机构：
[1] Oslo Univ Hosp, Oslo, Norway
来源：
PEDIATRIC NEPHROLOGY | 2017年 / 32卷 / 09期
关键词：
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
P-274
引用
收藏
页码：1767 / 1767
页数：1
相关论文
共 50 条
  • [1] Incompletely Penetrant PKD1 Alleles Mimic the Renal Manifestations of ARPKD
    Vujic, Mihailo
    Heyer, Christina M.
    Ars, Elisabet
    Hopp, Katharina
    Markoff, Arseni
    Orndal, Charlotte
    Rudenhed, Bengt
    Nasr, Samih H.
    Torres, Vicente E.
    Torra, Roser
    Bogdanova, Nadja
    Harris, Peter C.
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2010, 21 (07): : 1097 - 1102
  • [2] DETECTION OF FREQUENT MUTATIONS IN THE PKD1 GENE
    DAMODARASAMY, M
    DOBIN, A
    GABOW, P
    JOHNSON, A
    KIMBERLING, W
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 1995, 6 (03): : 719 - 719
  • [3] Novel mutations in the duplicated region of PKD1 gene
    Perrichot, R
    Mercier, B
    Quere, I
    Carre, A
    Simon, P
    Whebe, B
    Cledes, J
    Ferec, C
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (05) : 353 - 359
  • [4] Mutations found in PKD1 by DHPLC analysis.
    Fain, PR
    Kimberling, WJ
    Stetler, G
    Roberts, C
    Johnson, A
    Wu, G
    Morrow, S
    Robinson, ML
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 633 - 633
  • [5] Novel mutations in the duplicated region of PKD1 gene
    R Perrichot
    B Mercier
    I Quere
    A Carre
    P Simon
    B Whebe
    J Cledes
    C Ferec
    European Journal of Human Genetics, 2000, 8 : 353 - 359
  • [6] Detection of translation terminating mutations in the PKD1 gene
    Roelfsema, JH
    Peters, DJM
    Breuning, MH
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 1996, 11 : 5 - 9
  • [7] Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue
    Ong, ACM
    Harris, PC
    Davies, DR
    Pritchard, L
    Rossetti, S
    Biddolph, S
    Vaux, DJT
    Migone, N
    Ward, CJ
    KIDNEY INTERNATIONAL, 1999, 56 (04) : 1324 - 1333
  • [8] Patients with Protein-Truncating PKD1 Mutations and Mild ADPKD
    Lanktree, Matthew B.
    Guiard, Elsa
    Akbari, Pedram
    Pourafkari, Marina
    Iliuta, Ioan-Andrei
    Ahmed, Syed
    Haghighi, Amirreza
    He, Ning
    Song, Xuewen
    Paterson, Andrew D.
    Khalili, Korosh
    Pei, York P. C.
    CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2021, 16 (03): : 374 - 383
  • [9] Novel and recurrent mutations in the PKD1 (Polycystic Kidney disease) gene
    C. Daniells
    Magitha Maheshwar
    Lazarus Lazarou
    Felicity Davies
    Gerry Coles
    David Ravine
    Human Genetics, 1998, 102 : 216 - 220
  • [10] Novel and recurrent mutations in the PKD1 (Polycystic Kidney disease) gene
    Daniells, C
    Maheshwar, M
    Lazarou, L
    Davies, F
    Coles, G
    Ravine, D
    HUMAN GENETICS, 1998, 102 (02) : 216 - 220
12345