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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Bibliografske podrobnosti
Main Authors: Narahara, K, Takahashi, Y, Murakami, M, Tsuji, K, Yokoyama, Y, Murakami, R, Ninomiya, S, Seino, Y
Format: Artigo
Jezik:Inglês
Izdano: 1992
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016000/
https://ncbi.nlm.nih.gov/pubmed/1352356
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