Thirteen novel mutations of the replicated region of PKD1 in an Asian population

Kidney International

Volumn 58, Issue 4, 2000, Pages 1400-1412

  Phakdeekitcharoen, Bunyong ^a,b,c,d   Watnick, Terry J ^a,b,c,d   Ahn, Curie ^a,b,c,d   Whang, Dae Yeon ^a,b,c,d   Burkhart, Brian ^a,b,c,d   Germino, Gregory G ^a,b,c,d  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MAHIDOL UNIVERSITY   (Thailand)

^c Seoul National University Hospital   (South Korea)

^d HAUPTMAN WOODWARD MEDICAL RESEARCH INSTITUTE   (United States)

Author keywords

ADPKD; Gene conversion; Heredity; Korean PKD1; Long range polymerase chain reaction; Nonsense mutations; Polycystic kidney disease; Thai PKD1

Indexed keywords

POLYCYSTIN;

AMINO ACID SUBSTITUTION; ARTICLE; ASIAN; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENE STRUCTURE; GENETIC VARIABILITY; HUMAN; KIDNEY POLYCYSTIC DISEASE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

EID: 0033802011     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.2000.00302.x     Document Type: Article

References (42)

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5. PKD1 interacts with PKD2 through a probable coiled-coid domain
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14. Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion
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26. P1148A in fibrillin-1 is not a mutation anymore
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39. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC
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