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Identification of a Two Base Pair Deletion in Five Unrelated Families with Adrenoleukodystrophy: A Possible Hot Spot for Mutations

Mendelian DisorderPossible Hot SpotBase Pair DeletionGenetic DisorderGeneticsInherited Metabolic DiseasePathologyMolecular GeneticsFive Unrelated FamiliesDisease Gene IdentificationMedicineClinical Genetics