ABCA4 p.Gln285*
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PMID: 11379881
[PubMed]
Yatsenko AN et al: "Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)."
No.
Sentence
Comment
88
His asymptomatic wife carries a single novel nonsense ABCR allele, Q285X.
X
ABCA4 p.Gln285* 11379881:88:67
status: NEW89 Their children have inherited several combinations of alleles; siblings who inherited the maternal mutant allele Q285X have been affected at an early age (onset at 11, 8, and 9 years).
X
ABCA4 p.Gln285* 11379881:89:113
status: NEW