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

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.

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Genre: Journal Article
Alternative Title : Trends Genet.

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 Creators:
Ropers, Hans-Hilger1, Author           
Hoeltzenbein, Maria2, Author
Kalscheuer, Vera3, Author           
Yntema, Helger, Author
Hamel, Ben, Author
Fryns, Jean-Pierre, Author
Chelly, Jamel, Author
Partington, Michael, Author
Gecz, Jozef, Author
Moraine, Claude, Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              
3Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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 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.

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Language(s): eng - English
 Dates: 2003-06
 Publication Status: Issued
 Pages: -
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 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 127810
ISI: 000183781200007
DOI: 10.1016/S0168-9525(03)00113-6
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Title: Trends in Genetics
  Alternative Title : Trends Genet.
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 19 (6) Sequence Number: - Start / End Page: 316 - 320 Identifier: ISSN: 0168-9525