Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency

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Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

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Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency

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Cholesterol 25-hydroxylase is a metabolic switch to constrain T cell-mediated inflammation in the skin.

Recurrent herpes simplex virus infection in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy associated with L29P and IVS9-1G>C compound heterozygous autoimmune regulator gene mutations.

Detailed mapping of the ERG-ETS2 interval of human chromosome 21 and comparison with the region of conserved synteny on mouse chromosome 16.

Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I.

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

APECED mutations in the autoimmune regulator (AIRE) gene.

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Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency

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