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Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse by Dieter E. Jenne; Sigrid Tinschert; Michael O. Dorschner; Horst Hameister; Karen Stephens; Hildegard Kehrer‐Sawatzki is a Medicine article available to read on EtoBox.
What is Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse about?
## Abstract Duplicon‐mediated microdeletions around the __NF1__ gene are frequently associated with a severe form of neurofibromatosis type I in a subgroup of patients who show an earlier onset of cutaneous neurofibromas, dysmorphic facial features, and lower IQ values. To clarify the discrepancies between published maps of the __NF1__ tumor‐suppressor gene region as well as the length of gaps in these assemblies and to validate the recently described tandem duplication of the human __NF1__ locus, we assembled a contiguous high‐density map of BAC and PAC clones from different genomic libraries. Although two __WI‐12393__–derived low‐copy fragments are known to occur at the proximal and distal boundaries of the 1.5‐Mb segment that is usually deleted in NF1 microdeletion patients, we identified an additional __WI‐12393__–related segment between the __MGC13061__ and the __NF1__ gene, which appears to trigger interstitial deletions of smaller size as observed in two patients. Moreover, we completed the genomic organization and cDNA structure of all functional genes, __CYTOR4__, __FLJ12735__, __FLJ22729__, __CENTA2__, __MGC13061__, __NF1__, __OMG__, __EVI2B__, __EVI2A__, __KIAA1821__, __
Who reads Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse?
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- Author
- Dieter E. Jenne; Sigrid Tinschert; Michael O. Dorschner; Horst Hameister; Karen Stephens; Hildegard Kehrer‐Sawatzki
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1045-2257)
- Published
- 2003
- Language
- EN
- Field
- Medicine (Life Sciences)