1,721,018 research outputs found
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
No full textLysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
No full textSLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family.
No full textA 68-bp insertion foundin a homocystinuric patient is a common variant and is skipped by alternativesplicing of the cystathionine beta-synthase mRNA.
No full textStructure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
No full textSLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family.
No full textA 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 textStructure of the SLC7A7 gene and mutational anolysis of patients affected by lysinuric protein intolerance.
No full textA 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 textStructure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
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