Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother.
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| Description | scientific article |
| Author/s |
author: Yves Lacassie |
| Publication date | February 24, 2017 |
| Language | English |
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| Missing/wrong data? | Edit Wikidata item |