GLA missense and promoter variants co-segregating in a Chinese family with Fabry disease

BACKGROUND: Fabry disease (FD) is an X-linked recessive inheritance lysosomal storage disorder due to mutations in the GLA gene leading to deficiency of lysosomal α-galactosidase A (α-Gal A) and has a wide range of clinical presentations. Over 900 GLA gene mutations are currently known and of those...

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Dades bibliogràfiques
Publicat a:Ann Transl Med
Autors principals: Dong, Zhe-Yi, Wang, Qian, Lin, Shu-Peng, Chen, Pu, Liu, Jiao-Na, Liu, Shu-Wen, Cai, Guang-Yan, Chen, Xiang-Mei, Hong, Quan
Format: Artigo
Idioma:Inglês
Publicat: AME Publishing Company 2020
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7396806/
https://ncbi.nlm.nih.gov/pubmed/32793709
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm-19-4510
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