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Q53560248-206CBEA1-B0C7-44E7-91DB-B5AF1EB5268B
Q53560248-206CBEA1-B0C7-44E7-91DB-B5AF1EB5268B
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http://www.wikidata.org/entity/statement/Q53560248-206CBEA1-B0C7-44E7-91DB-B5AF1EB5268B
Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.
P2860
Q53560248-206CBEA1-B0C7-44E7-91DB-B5AF1EB5268B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q53560248-206CBEA1-B0C7-44E7-91DB-B5AF1EB5268B
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wasDerivedFrom
316172817971ca26f4d2a6f6c896b093fcf6fee3
P2860
A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.