 | | VARIANT: 26503v1 | |
| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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| Disease |
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| Reference |
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| Authors |
Aula N, Salomaki P, Timonen R, Verheijen F, Mancini G, Mansson JE, Aula P, Peltonen L |
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| Title |
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. |
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| Journal |
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| Reference |
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| Authors |
Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM |
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| Title |
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. |
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| Journal |
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| LinkDB |
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