Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.

Joos KM, Kimura AE, Vandenburgh K, Bartley JA, Stone EM
Arch Ophthalmol. 1994 112 (12): 1574-9

PMID: 7993212 · DOI:10.1001/archopht.1994.01090240080029

MeSH Terms (16)

Adult Blindness Child Child, Preschool Electroretinography Female Genes, Recessive Genetic Linkage Heterozygote Humans Male Middle Aged Mutation Polymorphism, Restriction Fragment Length Retina X Chromosome

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