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Mutation screening of X-chromosomal neuroligin genes: No mutations in 196 autism probands

✍ Scribed by Vincent, John B. ;Kolozsvari, Debbie ;Roberts, Wendy S. ;Bolton, Patrick F. ;Gurling, Hugh M.D. ;Scherer, Stephen W.


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
53 KB
Volume
129B
Category
Article
ISSN
0148-7299

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X-linked recessive myotubular myopathy (XLMTM; MTM1) is a severe neonatal disorder often causing perinatal death of the affected males. The responsible gene, designated MTM1, was localized to proximal Xq28 and recently isolated. The characterization of MTM1 allowed us to screen for causing mutations