PMID: 14609928

Margalit E, Sunness JS, Green WR, Kelman SE, Schachat AP, Fiergang D, Allikmets R
Stargardt disease in a patient with retinoblastoma.
Arch Ophthalmol. 2003 Nov;121(11):1643-6., [PubMed]
Sentences
No. Mutations Sentence Comment
52 ABCA4 p.Asn1868Ile
X
ABCA4 p.Asn1868Ile 14609928:52:80
status: NEW
view ABCA4 p.Asn1868Ile details
 Inthispatient,thechipdetected 5sequencevariants:H423R,P1401P, IVS33+48Cb0e;T,N1868I,andL1894L, allofwhichareconsiderednonpatho- genic polymorphisms. Login to comment 53 ABCA4 p.Asn1868Ile
X
ABCA4 p.Asn1868Ile 14609928:53:80
status: NEW
view ABCA4 p.Asn1868Ile details
 Inthispatient,thechipdetected 5sequencevariants:H423R,P1401P, IVS33+48CϾT,N1868I,andL1894L, allofwhichareconsiderednonpatho- genic polymorphisms. Login to comment