Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutatio...
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect
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Publisher
Cham: Springer International Publishing
Journal title
Language
English
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Publisher
Cham: Springer International Publishing
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Scope and Contents
Contents
Mutations in
PQBP1
were recently identified in families with syndromic and non-syndromic X-linked mental retardation (XLMR). Clinical features frequently associated with MR were microcephaly and/or short stature. The predominant mutations detected so far affect a stretch of six AG dinucleotides in the polar-amino-acid-rich domain (PRD), causi...
Alternative Titles
Full title
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect
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Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_00187864v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_00187864v1
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/sj.ejhg.5201593
