Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease

Mutation Research - Mutation Research Genomics

Volumn 432, Issue 1-2, 2000, Pages 39-45

  Kim, Un Kyung ^a   Jin, Dong Kyu ^b   Ahn, Curie ^a   Shin, Jae Hyun ^a   Lee, Kyu Beck ^c   Kim, Sung Han ^a   Chae, Jae Jin ^a   Hwang, Dae Yeon ^a   Lee, Jung Geon ^a   Namkoong, Yong ^d   Lee, Chung Choo ^a  

^a Seoul National University   (South Korea)

^b Sungkyunkwan University   (South Korea)

^c Sungkyunkwan University School of Medicine   (South Korea)

^d Gangneung Wonju National University   (South Korea)

Author keywords

Autosomal dominant polycystic kidney disease; PKD1 gene; Single strand conformation polymorphism

Indexed keywords

DNA; MEMBRANE PROTEIN; POLYCYSTIN; POLYCYSTIN 1; UNCLASSIFIED DRUG;

ARTICLE; ASIAN; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; DNA DETERMINATION; FRAMESHIFT MUTATION; GENE LOCATION; GENE MUTATION; HUMAN; KIDNEY POLYCYSTIC DISEASE; KOREA; MAJOR CLINICAL STUDY; MASS SCREENING; MISSENSE MUTATION; NONSENSE MUTATION; PATHOPHYSIOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

FRAMESHIFT MUTATION; GENETIC SCREENING; HUMANS; KOREA; MUTATION; MUTATION, MISSENSE; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; TRPP CATION CHANNELS;

EID: 0034143676     PISSN: 13835726     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1383-5726(99)00013-8     Document Type: Article

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