Á lódáil...
Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families
Objective: Mucolipidosis II and III alpha/beta (ML II & ML III alpha/beta) are rare autosomal recessive lysosomal storage disorders. ML II is clinically evident from birth with a progressive course and fatal outcome in childhood. The typical phenotypes of ML II include limited statural growth, c...
Na minha lista:
| Foilsithe in: | Int J Clin Exp Pathol |
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| Main Authors: | , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
e-Century Publishing Corporation
2019
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6949696/ https://ncbi.nlm.nih.gov/pubmed/31934135 |
| Clibeanna: |
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