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Nonsyndromic X-linked mental retardation: where are the missing mutations?

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http://pubman.mpdl.mpg.de/cone/persons/resource/persons50501

Ropers,  Hans-Hilger
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Hoeltzenbein,  Maria
Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50369

Kalscheuer,  Vera
Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Ropers, H.-H., Hoeltzenbein, M., Kalscheuer, V., Yntema, H., Hamel, B., Fryns, J.-P., et al. (2003). Nonsyndromic X-linked mental retardation: where are the missing mutations? Trends in Genetics, 19(6), 316-320. doi:10.1016/S0168-9525(03)00113-6.


Cite as: http://hdl.handle.net/11858/00-001M-0000-0010-8A36-7
Abstract
Analysis of linkage intervals from 125 unrelated families with nonsyndromic X-linked mental retardation (NS-XLMR) has revealed that the respective gene defects are conspicuously clustered in defined regions of the human X-chromosome, with approximately 30% of all mutations being located on the proximal Xp. In 83% of these families, underlying gene defects are not yet known. Our observations should speed up the search for mutations that are still missing and pave the way for the molecular diagnosis of this common disorder.