Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromato...
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency
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Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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Language
English
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Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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Contents
Creatine transporter deficiency is an X-linked mental retardation disorder caused by mutations in the creatine transporter gene,
SLC6A8
. In a European Mental Retardation Consortium panel of 66 patients, we identified a male with mental retardation, caused by a c.1059_1061delCTT; p.Phe354del mutation in the
SLC6A8
gene. With the use of...
Alternative Titles
Full title
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency
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Record Identifier
TN_cdi_proquest_miscellaneous_19714097
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_19714097
Other Identifiers
ISSN
1364-6745
E-ISSN
1364-6753
DOI
10.1007/s10048-008-0125-5
