UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
about
Intellectual Disability: When the Hypertrichosis Is a ClueA novel UBE2A mutation causes X-linked intellectual disability type Nascimento.CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression.UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.
P2860
UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
description
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name
UBE2A deficiency syndrome: a r ...... tions encompassing UBE2A gene.
@en
UBE2A deficiency syndrome: a r ...... tions encompassing UBE2A gene.
@nl
type
label
UBE2A deficiency syndrome: a r ...... tions encompassing UBE2A gene.
@en
UBE2A deficiency syndrome: a r ...... tions encompassing UBE2A gene.
@nl
prefLabel
UBE2A deficiency syndrome: a r ...... tions encompassing UBE2A gene.
@en
UBE2A deficiency syndrome: a r ...... tions encompassing UBE2A gene.
@nl
P2093
P2860
P356
P1476
UBE2A deficiency syndrome: a r ...... tions encompassing UBE2A gene.
@en
P2093
Lena Samuelsson
Liv Sodermark
Liz Ivarsson
Margarita Stefanova
Sofia Thunstrom
P2860
P304
P356
10.1002/AJMG.A.36800
P407
P577
2014-10-06T00:00:00Z