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Dokumenttyp:
journal article 
Autor(en):
Panza, E; Gimelli, G; Passalacqua, M; Cohen, A; Gimelli, S; Giglio, S; Ghezzi, C; Sparatore, B; Heye, B; Zuffardi, O; Rugarli, E; Meitinger, T; Romeo, G; Ravazzolo, R; Seri, M 
Titel:
The breakpoint identified in a balanced de novo translocation t(7; 9)(p14.1; q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies. 
Abstract:
We report the molecular characterization of a patient with Kallmann syndrome and bone anomalies bearing a balanced de novo translocation t(7; 9)(p14.1; q31.3) which completely disrupts the A-kinase anchor protein 2 gene (AKAP2) on chromosome 9. In order to investigate the role of AKAP2 in the pathogenesis of the disease, we analyzed the expression of Akap2 in mouse embryos. The expression pattern was consistent with the phenotype observed and mAkap2 was actually found in the olfactory bulb and i...    »
 
Zeitschriftentitel:
Int J Mol Med 
Jahr:
2007 
Band / Volume:
19 
Heft / Issue:
Seitenangaben Beitrag:
429-35 
Sprache:
eng 
Print-ISSN:
1107-3756 
TUM Einrichtung:
r Humangenetik