Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype-Reference-Cited by-同舟云学术

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Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype

Published:2024-02 Issue: Volume:67 Page:104907
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Harkness J. Robert,Thomas Huw B.,Urquhart Jill E.,Jamieson Peter,O'Keefe Raymond T.,Kingston Helen M.,Deshpande Charulata,Newman William G.^ORCID

Funder

Medical Research Council

Wellcome Trust

National Institute for Health and Care Research

Heart of England NHS Foundation Trust

Cancer Research UK

Manchester Biomedical Research Centre

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference29 articles.

1. Splicing mutations in human genetic disorders: examples, detection, and confirmation;Anna;J. Appl. Genet.,2018

2. Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?;Chin;Eur. J. Med. Genet.,2022

3. Early treatment of Menkes disease with parenteral Cooper-Histidine: long-term follow-up of four treated patients;Christodoulou;Am. J. Med. Genet.,1998

4. A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease;Dagenais;Am. J. Hum. Genet.,2001

5. Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome;Donsante;J. Med. Genet.,2007

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