Mutation detection within the duplicated region of the PKD1 gene.

被引:0
|
作者
Watnick, T
Landes, G
Neumann, HPH
Piontek, K
VanRaay, T
Weber, H
Germino, G
机构
[1] JOHNS HOPKINS UNIV, SCH MED, BALTIMORE, MD USA
[2] GENZYME GENET, FRAMINGHAM, MA USA
[3] UNIV FREIBURG, FREIBURG, GERMANY
来源
关键词
D O I
暂无
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:A1883 / A1883
页数:1
相关论文
共 50 条
  • [21] DNA structural transitions within the PKD1 gene
    Blaszak, RT
    Potaman, V
    Sinden, RR
    Bissler, JJ
    NUCLEIC ACIDS RESEARCH, 1999, 27 (13) : 2610 - 2617
  • [22] Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion
    Afzal, AR
    Florêncio, RN
    Taylor, R
    Patton, MA
    Saggar-Malik, A
    Jeffery, S
    GENETIC TESTING, 2000, 4 (04): : 365 - 370
  • [23] A severe renal phenotype resulting from a TSC2 mutation without involvement of the PKD1 gene.
    Au, KS
    Roach, ES
    Northrup, H
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A325 - A325
  • [24] Detection of translation terminating mutations in the PKD1 gene
    Roelfsema, JH
    Peters, DJM
    Breuning, MH
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 1996, 11 : 5 - 9
  • [25] Mutations in the non-duplicated region of the PKD1 gene in families with autosomal dominant polycystic kidney disease (ADPKD)
    Stekrova, J.
    Reiterova, J.
    Svobodova, S.
    Merta, M.
    Kohoutova, M.
    KIDNEY & BLOOD PRESSURE RESEARCH, 2006, 29 (06): : 384 - 385
  • [26] Mutation detection for exons 2 to 10 of the Polycystic Kidney Disease 1 (PKD1)-gene by DGGE
    Dorien JM Peters
    Yavuz Ariyurek
    Marjan van Dijk
    Martijn H Breuning
    European Journal of Human Genetics, 2001, 9 : 957 - 960
  • [27] Mutation detection for exons 2 to 10 of the Polycystic Kidney Disease 1 (PKD1)-gene by DGGE
    Peters, DJM
    Ariyurek, Y
    van Dijk, M
    Breuning, MH
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2001, 9 (12) : 957 - 960
  • [28] Mutation analysis of the entire PKD1 gene:: Genetic and diagnostic implications
    Rossetti, S
    Strmecki, L
    Gamble, V
    Burton, S
    Sneddon, V
    Peral, B
    Roy, S
    Bakkaloglu, A
    Komel, R
    Winearls, CG
    Harris, PC
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (01) : 46 - 63
  • [29] Thermodynamic characterization of intramolecular triplex formation within the PKD1 gene
    Patel, HP
    Lu, L
    Blaszak, RT
    Keller, R
    Bissler, JJ
    PEDIATRIC RESEARCH, 2002, 51 (04) : 425A - 425A
  • [30] Mutations in the non-duplicated region of the PKD1 gene in families with autosomal dominant polycystic kidney disease in Czech Republic
    Stekrova, Jitka
    Reiterova, Jana
    Merta, Miroslav
    Zidovska, Jana
    Kohoutova, Milada
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2006, 21 : 346 - 346