ABCMdb

PMID: 12111371

Ishii J, Nagano M, Kujiraoka T, Ishihara M, Egashira T, Takada D, Tsuji M, Hattori H, Emi M
Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis.
J Hum Genet. 2002;47(7):366-9., [PubMed]

Sentences

No. Mutations Sentence Comment

11 ABCA1 p.Arg1680Trp We have documented here a clinical variant of TD in a Japanese patient who manifested corneal lipidosis and premature coronary artery disease as well as an almost complete absence of HDL-cholesterol, by identifying a novel homozygous ABCA1 mutation (R1680W). Login to comment 22 ABCA1 p.Arg1680Trp We tested for the observed R1680W mutation in the proband and relatives using the PCR-restriction fragment length polymorphism (RFLP) method, by amplifying a 351-bp fragment of exon 37 with primers 5Ј-TTGACTGTTGCCCCTTATCTA-3Ј and 5Ј-ATGCCCCTGCCAACTTTACC-3Ј and digesting the product with BsrBI. Login to comment 37 ABCA1 p.Arg1680Trp Detection of the R1680W mutation in the proband`s family by polymerase chain reaction (PCR)-restriction fragment length polymorphism. Login to comment