PMID: 12153800

Frisch IB, Haag P, Steffen H, Weber BH, Holz FG
Kjellin's syndrome: fundus autofluorescence, angiographic, and electrophysiologic findings.
Ophthalmology. 2002 Aug;109(8):1484-91., [PubMed]
Sentences
No. Mutations Sentence Comment
69 ABCA4 p.Asn1868Ile
X
ABCA4 p.Asn1868Ile 12153800:69:40
status: NEW
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ABCA4 p.Leu1894Ile
X
ABCA4 p.Leu1894Ile 12153800:69:64
status: NEW
view ABCA4 p.Leu1894Ile details
 intragenic polymorphisms 5603AϾT (N1868I), 5682GϾC (L1894I), and IVS28 ϩ 43GϾA (Fig 7). Login to comment 71 ABCA4 p.Asn1868Ile
X
ABCA4 p.Asn1868Ile 12153800:71:289
status: NEW
view ABCA4 p.Asn1868Ile details
 We therefore decided to use polymerase chain reaction amplification and directly sequence all coding exons and flanking intronic sequences of the patient`s ABCA4 gene by using primer sequences and polymerase chain reaction conditions as described previously in Rivera et al.12 Besides the N1868I and IVS28 ϩ 43GϾA polymorphisms, the patient was also heterozygous for DNA variants IVS6-32TϾC, 3331AϾC (R1111R), 5814AϾG (L1938L), IVS43-16GϾA, and 6285TϾC (D2095D). Login to comment