Novel mutations in the 3' region of the polycystic kidney disease 1 (PKD1) gene
| Autor: | M. Hand, E. Ternes-Pereira, A K Saggar-Malik, Stephen Jeffery, Ali R. Afzal, Rohan Taylor |
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| Rok vydání: | 1999 |
| Předmět: |
Male
Polycystine TRPP Cation Channels DNA Mutational Analysis Molecular Sequence Data medicine.disease_cause Polymerase Chain Reaction Exon Genetics medicine Polycystic kidney disease Humans Amino Acid Sequence Gene Polymorphism Single-Stranded Conformational Genetics (clinical) Mutation Base Sequence PKD1 biology Proteins Single-strand conformation polymorphism Exons Polycystic Kidney Autosomal Dominant biology.organism_classification medicine.disease Human genetics Pedigree Female |
| Zdroj: | Human Genetics. 105:648-653 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/s004399900177 |
| Popis: | Mutation screening in 90 unrelated ADPKD1 patients was carried out on some of the exons in the single copy area (37, 38, 39, 44, 45) using genomic PCR and SSCP. Four novel mutations were found: a 15 bp in-frame deletion in exon 39 [nt11449 (del 15)], a 2 bp deletion in exon 44 [nt12252 (del 2)], a G insertion in exon 44 [nt12290 (Ins G)], and a GTT in-frame deletion in exon 45 [nt12601 (del 3)]. |
| Databáze: | OpenAIRE |
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