Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.
Macke
J P
JP
Department of Molecular Biology, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Hennessey
J C
JC
Nathans
J
J
D000409:Alanine / Q000235:genetics / Q000502:physiology*; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011392:Proline / Q000235:genetics / Q000502:physiology*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
D004247:DNA; D012243:Rhodopsin; D011392:Proline; D000409:Alanine