Associated Papers
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
39386107 (PubMed )
Supplement: mmc2.xlsx › standard
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
Li L et al.
Plos Genetics, 2018
30157172 (PubMed )
Supplement: pgen.1007504.s006.xlsx › S4_Table
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4.
Zhang Q et al.
Human Genetics, 2005
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