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Evidence for the assignment of GUK 1 gene locus to 1q32 leads to q43 segment from gene dosage effect

Dallapiccola, B.; Lungarotti, M.S.; Falorni, A.; Magnani, M.; Dacha, M.

Annales de Genetique 23(2): 83-85

1980

ISSN/ISBN: 0003-3995
PMID: 6249178
Document Number: 166667
A male infant with dup (1) (q32 leads to q43) constitution is reported. He had mental and physical retardation and a constellation of dysmorphisms, which are considered characteristic of trisomics for the distal one-third of the long arm of chromosome 1. The assay for guanylate kinase 1 (GUK 1) activity showed a gene dosage effect and confirmed the regional assignment of this marker in the chromosomal region indicated by data derived from somatic hybrids.

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Slovak, M.L.; Ho, J.P.; Cole, S.P.; Deeley, R.G.; Greenberger, L.; de Vries, E.G.; Broxterman, H.J.; Scheffer, G.L.; Scheper, R.J. 1995: The LRP gene encoding a major vault protein associated with drug resistance maps proximal to MRP on chromosome 16: evidence that chromosome breakage plays a key role in MRP or LRP gene amplification Cancer Research 55(19): 4214-4219
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Li, J.-W.; Liu, Y.; Li, K.; Song, D.; Ye, Q.-P. 2010: Cloning of a fusion gene containing hGM-CSF gene and gene encoding L protein of HBV and expression in Pichia Pastoris Hepato-Gastroenterology 57(99-100): 578-582
Wang, G.; Hu, S.; Zheng, Z.; Sun, J.; Zheng, X.; Zhu, Z.; Li, J.; Yao, Y. 2006: Synthesis of new gene-loaded microbubbles serve as gene delivery vehicle applied in reporter gene transfer into cardiac myocytes Sheng Wu Yi Xue Gong Cheng Xue Za Zhi 23(4): 856-861