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Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.
Collins FA, Murphy DL, Reiss AL, Sims KB, Lewis JG, Freund L, Karoum F, Zhu D, Maumenee IH, Antonarakis SE. Collins FA, et al. Among authors: antonarakis se. Am J Med Genet. 1992 Jan 1;42(1):127-34. doi: 10.1002/ajmg.1320420126. Am J Med Genet. 1992. PMID: 1308352
Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.
Higuchi M, Kazazian HH Jr, Kasch L, Warren TC, McGinniss MJ, Phillips JA 3rd, Kasper C, Janco R, Antonarakis SE. Higuchi M, et al. Among authors: antonarakis se. Proc Natl Acad Sci U S A. 1991 Aug 15;88(16):7405-9. doi: 10.1073/pnas.88.16.7405. Proc Natl Acad Sci U S A. 1991. PMID: 1908096 Free PMC article.
677 results