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A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X-linked intellectual disability type Nascimento.

• Authors : Ma D; State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, People's Republic of China.; Tan J

Subjects: Frameshift Mutation*; Mental Retardation, X-Linked/Mental Retardation, X-Linked/Mental Retardation, X-Linked/*genetics ; RNA Splice Sites/RNA Splice Sites/RNA Splice Sites/*genetics

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Nov; Vol. 7 (11), pp. e976. Date of Electronic Publication: 2019 Sep 30.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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