The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome-Reference-Cited by-同舟云学术

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome

Author:

Urreizti Roser¹^ORCID,Gürsoy Semra²,Castilla-Vallmanya Laura¹,Cunill Guillem¹,Rabionet Raquel¹,Erçal Derya²,Grinberg Daniel¹,Balcells Susana¹

Affiliation:

1. Department of Genetics, Microbiology and Statistics; Faculty of Biology; University of Barcelona; IBUB, IRSJD, CIBERER; Barcelona Spain

2. Department of Pediatric Genetics; Dokuz Eylül University; İzmir Turkey

Funder

Associació Síndrome Opitz C, Terrassa, Spain

Agència de Gestió d’Ajuts Universitaris i de Recerca

CIBERER

Secretaría de Estado de Investigación, Desarrollo e Innovación

FECYT

crowdfunding PRECIPITA

Generalitat de Catalunya

Publisher

Wiley

Subject

General Medicine

Link

Reference15 articles.

5. Analysis of ASXL1 mutations in a large series of myeloid malignancies;Van Ness;Mod Pathol,2016

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