Mutation hotspots in the human porphobilinogen deaminase gene: Recurrent mutations G111R and R173Q occurring at CpG motifs

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Springer Publishing Company

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A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation

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Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation

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A Novel Mutation in the MC2R Gene Causing Familial Glucocorticoid Deficiency Type 1

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Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation

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