Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: A report on three patients
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference22 articles.
1. Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1→q13.2
2. Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
3. Adenylosuccinase deficiency: A newly recognized variant
4. Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis
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