Novel and <it>de novo PKD1 </it>mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)
<p>Abstract</p> <p>Background</p> <p>We have previously developed a long RT-PCR method for selective amplification of full-length <it>PKD1 </it>transcripts (13.6 kb) and a long-range PCR for amplification in the reiterated region (18 kb) covering exons 14 an...
Main Authors: | Bunditworapoom Duangkamon, Sirinavin Chintana, Vareesangthip Kriengsak, Limwongse Chanin, Thongnoppakhun Wanna, Rungroj Nanyawan, Yenchitsomanus Pa-thai |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2004-02-01
|
Series: | BMC Medical Genetics |
Online Access: | http://www.biomedcentral.com/1471-2350/5/2 |
Similar Items
-
Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita
by: Benjaporn Panichareon, et al.
Published: (2015-08-01) -
Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis
by: Nipaporn Deejai, et al.
Published: (2022-10-01) -
PCR-Single strand conformation polymorphism (SSCP) analysis of Salmonella typhi and other Salmonella serovars
by: Nair, S., et al.
Published: (2002) -
Single strand conformation polymorphism (SSCP) detection in six genes in Portuguese indigenous sheep breed
by: Guedes-Pinto H., et al.
Published: (2001-01-01) -
The efficacy of low-dose warfarin initiation (3 mg versus 5 mg) in newly diagnosed venous thromboembolism patients among a population with a high prevalence of warfarin-sensitive haplotype of the VKORC1 gene: a randomized controlled trial
by: Bundarika Suwanawiboon, et al.
Published: (2022-12-01)