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Quoted phrase not found in phrase index: "Congenital stationary night blindness autosomal dominant 3"
Page 1
Congenital motor nystagmus linked to Xq26-q27.
Kerrison JB, Vagefi MR, Barmada MM, Maumenee IH. Kerrison JB, et al. Am J Hum Genet. 1999 Feb;64(2):600-7. doi: 10.1086/302244. Am J Hum Genet. 1999. PMID: 9973299 Free PMC article.
It must be distinguished from those genetic disorders-such as ocular albinism (OA), congenital stationary night blindness (CSNB), and blue-cone monochromatism (BCM)-in which nystagmus accompanies a clinically apparent defect in the visual sensory syste …
It must be distinguished from those genetic disorders-such as ocular albinism (OA), congenital stationary night blin …
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.
Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T. Gal A, et al. Nat Genet. 1994 May;7(1):64-8. doi: 10.1038/ng0594-64. Nat Genet. 1994. PMID: 8075643
The locus for autosomal dominant congenital stationary night blindness (adCSNB) has recently been assigned to distal chromosome 4p by linkage analysis in a large Danish family. ...Homozygous nonsense mutations in the beta PDE gene have be …
The locus for autosomal dominant congenital stationary night blindness (adCSNB) has recently been …