Associated Papers
A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance.
Astrea G et al.
Pediatric Neurology, 2015
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
Bisceglia L et al.
Molecular Genetics and Metabolism, 2010
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.
Bisceglia L et al.
Human Genetics, 2007
Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping.
Schmidt C et al.
Molecular Genetics and Metabolism, 2005
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