Mutation screening of the PKD1 transcript by RT-PCR

Journal of Medical Genetics

Volumn 39, Issue 6, 2002, Pages 422-429

  Burtey, S ^a   Lossi, A M ^a   Bayle, J ^a   Berland, Y ^a   Fontes M ^a  

^a INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; PRIMER DNA;

ADULT; AGED; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; DNA TRANSCRIPTION; EXON; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; HUMAN; KIDNEY POLYCYSTIC DISEASE; LETTER; PRIORITY JOURNAL; RELIABILITY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE HOMOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0036081948     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.39.6.422     Document Type: Letter

References (24)

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5. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
6. Bilateral polycystic kidney disease of the kidneys a follow up of 284 patients and their families
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8. Homologues of the first gene for autosomal dominant polycystic kidney diseases are pseudogenes
9. Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach
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11. Mutation detection in the repeated part of the PKD1 gene
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13. Mutation analysis of the entire PKD1 gene: Genetic and diagnostic implications
14. Gene conversion is a likely cause of mutation in PKD1
15. Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR
16. Mutation detections of PKD1 identifies a novel mutation common to three families with aneurysms and or very early onset disease
17. Thirteen novel mutations of the replicated region of PKD1 in an Asian population
18. Novel mutations in the duplicated region of PKD1 gene
19. Novel splicing and missense mutations in autosomal dominant polycystic kinase disease 1 (PKD1) gene: Expression of mutated genes
20. DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients
21. Mutational analysis within the 3′ region of the PKD1 gene
22. The PLAT domain: A new piece in the PKD1 puzzle
23. Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene
24. Novel mutations in the 3′ region of the polycystic kidney disease 1 (PKD1) gene