Novel mutations in the 3' region of the polycystic kidney disease 1 (PKD1) gene
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...
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| Published in | Human genetics Vol. 105; no. 6; pp. 648 - 653 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Heidelberg
Springer
01.12.1999
Berlin New York, NY |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0340-6717 1432-1203 |
| DOI | 10.1007/s004399900177 |
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| Abstract | 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)]. |
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| AbstractList | 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)]. 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)].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)]. |
| Author | Taylor, R. Ternes-Pereira, E. Saggar-Malik, A. Jeffery, S. Afzal, A.R. Hand, M. |
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| Keywords | Kidney disease Case study Human Urinary system disease Polycystic kidney Cyst Polycystin Genetics Benign neoplasm Mutation Genetic disease |
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| Snippet | 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... |
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| SubjectTerms | Amino Acid Sequence Base Sequence Biological and medical sciences DNA Mutational Analysis Exons Female Humans Kidneys Male Malformations of the urinary system Medical sciences Molecular Sequence Data Nephrology. Urinary tract diseases Pedigree Polycystic Kidney, Autosomal Dominant - genetics Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Proteins - genetics TRPP Cation Channels |
| Title | Novel mutations in the 3' region of the polycystic kidney disease 1 (PKD1) gene |
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