Associated Papers
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
35456481 (PubMed )
Supplement: genes-13-00675-s001.zip › genes-1649451-supplementary.xlsx › Supplementary_Table_S2
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Sergeev YV et al.
Human Molecular Genetics, 2010
In planta transient expression as a system for genetic and biochemical analyses of chlorophyll biosynthesis.
Sawers RJ et al.
Plant Methods, 2006
Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.
Wang T et al.
The British Journal of Ophthalmology, 2006
Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis.
Khan NW et al.
Vision Research, 2001
[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].
Nakazawa M
Nippon Ganka Gakkai Zasshi, 1999
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.
Unknown Author
Human Molecular Genetics, 1998
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