GNPTAB c.2404C > T nonsense mutation in a patient with...

BMC Medical Genetics 2018 / 12 Vol. 19; Iss. 1

GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report

Ho, Chi-Chun, Tsung, Lilian Li-Yan, Liu, Kam-Tim, Poon, Wing-Tat
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Volume:
19
Language:
english
Journal:
BMC Medical Genetics
DOI:
10.1186/s12881-018-0679-5
Date:
December, 2018
File:
PDF, 1.65 MB
english, 2018
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