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Items: 2

1.

LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

Majer F, Piherova L, Reboun M, Stara V, Pelak O, Norambuena P, Stranecky V, Krebsova A, Vlaskova H, Dvorakova L, Kmoch S, Kalina T, Kubanek M, Sikora J.

Am J Med Genet A. 2018 Nov;176(11):2430-2434. doi: 10.1002/ajmg.a.40430. Epub 2018 Sep 8.

PMID:
30194816
2.

New fluorescent bile acids: synthesis, chemical characterization, and disastereoselective uptake by Caco-2 cells of 3-deoxy 3-NBD-amino deoxycholic and ursodeoxycholic acid.

Májer F, Salomon JJ, Sharma R, Etzbach SV, Najib MN, Keaveny R, Long A, Wang J, Ehrhardt C, Gilmer JF.

Bioorg Med Chem. 2012 Mar 1;20(5):1767-78. doi: 10.1016/j.bmc.2012.01.002. Epub 2012 Jan 12.

PMID:
22316556

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