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Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability

Mutations in IQSEC2, a guanine nucleotide exchange factor for the ADP-ribosylation factor (Arf) family of small GTPases have recently been shown to cause non-syndromic X-linked intellectual disability (ID), characterised by substantial limitations in intellectual functioning and adaptive behaviour....

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Shoubridge, Cheryl, Walikonis, Randall S, Gécz, Jozef, Harvey, Robert J
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Landes Bioscience 2010
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3116596/
https://ncbi.nlm.nih.gov/pubmed/21686261
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/sgtp.1.2.13285
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