Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci
| العنوان: | Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci |
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| المؤلفون: | Seyed Morteza Seifati, Andreas Tzschach, Masoumeh Falah, Hans-Hilger Ropers, Payman Jamali, Hossein Najmabadi, Reza Vazifehmand, Wei Chen, Valeh Hadavi, Franz Rüschendorf, Lars Riff Jensen, Sahar Esmaeeli Nieh, Annette Grüters, Masoud Garshasbi, Andreas W. Kuss, M. Mahdi Motazacker, Steffen Lenzner, Seyedeh Sedigheh Abedini, Kimia Kahrizi, Saghar Ghasemi Firouzabadi, Farkhondeh Behjati |
| المصدر: | Human Genetics. 121:43-48 |
| بيانات النشر: | Springer Science and Business Media LLC, 2006. |
| سنة النشر: | 2006 |
| مصطلحات موضوعية: | Adult, Genetic Markers, Male, Genes, Recessive, Locus (genetics), Consanguinity, Iran, Biology, Genetic Heterogeneity, Gene mapping, Intellectual Disability, Genetics, Humans, Family, Child, Genetics (clinical), Autosome, Genetic heterogeneity, Homozygote, Disease gene identification, Human genetics, Pedigree, Genetic marker, Female |
| الوصف: | Autosomal recessive gene defects are arguably the most important, but least studied genetic causes of severe cognitive dysfunction. Homozygosity mapping in 78 consanguineous Iranian families with nonsyndromic autosomal recessive mental retardation (NS-ARMR) has enabled us to determine the chromosomal localization of at least 8 novel gene loci for this condition. Our data suggest that in the Iranian population NS-ARMR is very heterogeneous, and they argue against the existence of frequent gene defects that account for more than a few percent of the cases. |
| تدمد: | 1432-1203 0340-6717 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38dfc2682ee6996390ecd34fe049294cTest https://doi.org/10.1007/s00439-006-0292-0Test |
| حقوق: | RESTRICTED |
| رقم الانضمام: | edsair.doi.dedup.....38dfc2682ee6996390ecd34fe049294c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14321203 03406717 |
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