1 - 1 / 1 1 |
1. Clinical and haplotypic variability of Slovenian USH2A patients homozygous for the c. 11864G>A nonsense mutation Andrej Zupan, Ana Fakin, Saba Battelino, Martina Jarc-Vidmar, Marko Hawlina, Crystel Bonnet, Christine Petit, Damjan Glavač, 2019, izvirni znanstveni članek Ključne besede: USH2A, haplotypic variability, homozygous mutation, usher syndrome, founder effect, haplotype analysis, high resolution melting analysis |