Citation
Ar. Afzal et al., Novel mutations in the 3 ' region of the polycystic kidney disease 1 (PKD1) gene, HUM GENET, 105(6), 1999, pp. 648-653
Citations number
32
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN GENETICS
ISSN journal
03406717
→ ACNP
Volume
105
Issue
6
Year of publication
1999
Pages
648 - 653
Database
ISI
SICI code
0340-6717(199912)105:6<648:NMIT3'>2.0.ZU;2-B
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 ex
on 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 exo
n 45 [nt12601 (del 3)].