S79305[Secondary Source ID] - Search Results

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Amplification and characterization of the retinoblastoma gene VNTR by PCR.

Scharf SJ, Bowcock AM, McClure G, Klitz W, Yandell DW, Erlich HA. Scharf SJ, et al. Am J Hum Genet. 1992 Feb;50(2):371-81. Am J Hum Genet. 1992. PMID: 1734717 Free PMC article.

A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect.

Landsberger D, Meiner V, Reshef A, Levy Y, van der Westhuyzen DR, Coetzee GA, Leitersdorf E. Landsberger D, et al. Am J Hum Genet. 1992 Feb;50(2):427-33. Am J Hum Genet. 1992. PMID: 1734722 Free PMC article.

A chromosome 14-specific human satellite III DNA subfamily that shows variable presence on different chromosomes 14.

Choo KH, Earle E, Vissel B, Kalitsis P. Choo KH, et al. Am J Hum Genet. 1992 Apr;50(4):706-16. Am J Hum Genet. 1992. PMID: 1550116 Free PMC article.

Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site.

Solera J, Magallón M, Martin-Villar J, Coloma A. Solera J, et al. Am J Hum Genet. 1992 Feb;50(2):434-7. Am J Hum Genet. 1992. PMID: 1346483 Free PMC article.

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