44 research outputs found
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
No full text
A 68 bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine b-synthase mRNA
No full textArginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects.
No full textStructure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
No full text
