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Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.
A 7 month old girl with psychomotor retardation, hypotonia, and minor malformations was found to have a terminal deletion of the long arm of chromosome 22, del(22)(q13.31). The partial deficiency of arylsulphatase A (ARSA) and the normal level of NADH diaphorase 1 (DIA1) suggests that the ARSA locus...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1992
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1016000/ https://ncbi.nlm.nih.gov/pubmed/1352356 |
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