Molecular analysis of 17 patients with X-linked adrenoleukodystrophy syndrome.
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*Novel Mutations,1ccALD-Childhood Adrenoleukodystrophy, AMN-Adrenomyeloneuropathy, ACALD-Adult Cerebral Adrenoleukodystrophy, AdolCALD- Adolescent cerebral Adrenoleukodystrophy.2TMD: Transmembrane Domain.3The nucleotide-binding fold (NBF), with Walker A and B regions – separated by the C sequence.4IVS- Intervening Sequence,5PolyPhen Position-Specific Independent Counts. Normal ALDP level (+++), Reduced ALDP level (++), Very low Level of ALDP (+), Absence of ALDP (−), n.d: not defined.
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2015-12-02
