Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia,...
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia
About this item
Full title
Author / Creator
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
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More information
Scope and Contents
Contents
ABSTRACT
Purpose
Identifying and characterizing novel causes of autosomal recessive intellectual disability based on systematic clinical and genetic evaluation, followed by functional experiments.
Methods
Clinical examinations, genome-wide positional mapping, and sequencing were followed by quantitative polymerase chain reaction and wes...
Alternative Titles
Full title
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia
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Record Identifier
TN_cdi_proquest_miscellaneous_2164100618
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2164100618
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-018-0415-8
