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26 results
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Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP. van den Hurk JA, et al. Among authors: de wijs ij. Hum Genet. 2003 Aug;113(3):268-75. doi: 10.1007/s00439-003-0970-0. Epub 2003 Jun 25. Hum Genet. 2003. PMID: 12827496
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
Bax NM, Sangermano R, Roosing S, Thiadens AA, Hoefsloot LH, van den Born LI, Phan M, Klevering BJ, Westeneng-van Haaften C, Braun TA, Zonneveld-Vrieling MN, de Wijs I, Mutlu M, Stone EM, den Hollander AI, Klaver CC, Hoyng CB, Cremers FP. Bax NM, et al. Hum Mutat. 2015 Jan;36(1):43-7. doi: 10.1002/humu.22717. Hum Mutat. 2015. PMID: 25363634
26 results