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A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family |
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Titel: |
A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family |
Auteur: |
Yang, Yan Tang, Nie Zhu, Ying Zhang, Lei Cao, Xu Liu, Limei Xia, Wei Li, Pengqiu Yang, Yi |
Verschenen in: |
Metabolic brain disease |
Paginering: |
Jaargang 36 () nr. 4 pagina's 589-599 |
Jaar: |
2021-02-08 |
Inhoud: |
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Uitgever: |
Springer US, New York |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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