UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.

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UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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UBE2A deficiency in two siblin ...... a maternal germline mosaicism.

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UBE2A deficiency in two siblin ...... a maternal germline mosaicism.

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UBE2A deficiency in two siblin ...... a maternal germline mosaicism.

@en

UBE2A deficiency in two siblin ...... a maternal germline mosaicism.

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UBE2A deficiency in two siblin ...... a maternal germline mosaicism.

@en

UBE2A deficiency in two siblin ...... a maternal germline mosaicism.

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P1476

UBE2A deficiency in two siblin ...... a maternal germline mosaicism

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P2093

Annalaura Torella

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Francesca Del Vecchio Blanco

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Pia Bernardo

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Teresa Giugliano

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Vincenzo Nigro

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P2860

UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome

Symmetry and asymmetry of the RING-RING dimer of Rad18

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Next-generation sequencing in X-linked intellectual disability.

Ubiquitin-conjugating enzymes: novel regulators of eukaryotic cells.

Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.

Etiological yield of SNP microarrays in idiopathic intellectual disability.

An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression.

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722-726

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scholarly article

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10.1002/AJMG.A.38589

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English

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176

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Giulio Piluso

Claudia Santoro

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2017-12-28T00:00:00Z

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P698

29283210

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P921

sibling