Mapping, cloning and genetic characterization of the region containing the Wilson disease gene

Autor: Petrukhin, K., Fischer, S. G., Pirastu, M., Tanzi, R. E., Chernov, I., Devoto, Marcella, Brzustowicz, L. M., Cayanis, E., Vitale, E., Russo, J. J., Matseoane, D., Boukhgalter, B., Wasco, W., Figus, A. L., Loudianos, J., Cao, A., Sternlieb, I., Evgrafov, G., Parano, E., Pavone, L., Warburton, D., Ott, J., Penchaszadeh, G. K., Scheinberg, I. H., Gilliam, T. C.

Publikováno v: Nature genetics
5 (1993): 338–343. doi:10.1038/ng1293-338
info:cnr-pdr/source/autori:Petrukhin K.; Fischer S.G.; Pirastu M.; Tanzi R.E.; Chernov I.; Devoto M.; Brzustowicz L.M.; Cayanis E.; Vitale E.; Russo J.J.; Matseoane D.; Boukhgalter B.; Wasco W.; Figus A.L.; Loudianos J.; Cao A.; Sternlieb I.; Evgrafov O.; Parano E./titolo:Mapping, cloning and genetic characterization of the region containing the Wilson disease gene/doi:10.1038%2Fng1293-338/rivista:Nature genetics (Print)/anno:1993/pagina_da:338/pagina_a:343/intervallo_pagine:338–343/volume:5

Wilson disease (WD) is an autosomal recessive disorder of copper transport which maps to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene reg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bb9b3e7f527bd0994117a01c1df6b1e
https://doi.org/10.1038/ng1293-338

Paternal Isodisomy for Chromosome 5 in a Child with Spinal Muscular Atrophy

Autor: Brzustowicz, L. M., Allitto, B. A., Matseoane, D., Theve, R., Michaud, L., Chatkupt, S., Sugarman, E., Penchaszadeh, G. K., Suslak, L., Koenigsberger, M. R., Gilliam, T. C., Handelin, B. L.

Paternal isodisomy for chromosome 5 was detected in a 2-year-old boy with type III spinal muscular atrophy (SMA), an autosomal recessive degenerative disorder of alpha motor neurons, known to map to 5q11.2-13.3. Examination of 17 short-sequence repea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cb80dfb2b78aed81f76ad8722ed7da40
https://europepmc.org/articles/PMC1918127/

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Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder.

Autor: Gharani, N., Benayed, R., Mancuso, V., Brzustowicz, L. M., Millonig, J. H.

Publikováno v: Molecular Psychiatry; May2004, Vol. 9 Issue 5, p474-484, 11p