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Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy
by
Montagna, Giorgia
,
Di Biase, Antonella
,
Cappa, Marco
,
Melone, Mariarosa A.B.
,
Piantadosi, Carlo
,
Colabianchi, Diego
,
Patrono, Clarice
,
Attori, Lucilla
,
Cannelli, Natalia
,
Cotrufo, Roberto
,
Salvati, Serafina
,
Santorelli, Filippo M.
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Human mutation
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Human Mutation
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Abcd1
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Adrenoleukodystrophy
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Adrenoleukodystrophy - Diagnosis
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Adrenoleukodystrophy - Genetics
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Adrenoleukodystrophy - Metabolism
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Atp Binding Cassette Transporter, Sub-Family D, Member 1
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Atp-Binding Cassette Transporters - Genetics
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Atp-Binding Cassette Transporters - Metabolism
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Chromatography
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Chromatography, High Pressure Liquid - Methods
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Dna Mutational Analysis - Methods
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Female
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Genetic Testing
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Humans
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Italy
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Male
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Mutation
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X-Linked
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X‐Linked
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