Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report

doi:10.12998/wjcc.v9.i26.7876

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Sep 16, 2021 (publication date) through Apr 25, 2024

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World Journal of Clinical Cases

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2307-8960

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Clin Cases. Sep 16, 2021; 9(26): 7876-7885
Published online Sep 16, 2021. doi: 10.12998/wjcc.v9.i26.7876

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Figure 2 Genetic testing results of the family. The patient carries the c.1036G>A (p.E346K) mutation in the ATP6AP1 gene. The red arrow refers to mutated nucleotide c.1036G>A in the patient. The genotypes of this locus in his parents were normal.

Citation: Yang X, Lv ZL, Tang Q, Chen XQ, Huang L, Yang MX, Lan LC, Shan QW. Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report. World J Clin Cases 2021; 9(26): 7876-7885
URL: https://www.wjgnet.com/2307-8960/full/v9/i26/7876.htm
DOI: https://dx.doi.org/10.12998/wjcc.v9.i26.7876