Associated Papers
Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I.
Yan L et al.
Molecular Genetics & Genomic Medicine, 2024
Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.
Tang WJ et al.
World Journal of Clinical Cases, 2021
LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.
Soler-Palacín P et al.
Frontiers in Immunology, 2018
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