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Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation
In a systematic sequencing screen of the coding exons of the X chromosome in 250 families with X-linked mental retardation (XLMR), we identified two nonsense mutations and one consensus splice-site mutation in the AP1S2 gene on Xp22 in three families. Affected individuals in these families showed mi...
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Glavni autori: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Artigo |
Jezik: | Inglês |
Izdano: |
The American Society of Human Genetics
2006
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Teme: | |
Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1698718/ https://ncbi.nlm.nih.gov/pubmed/17186471 |
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