Molecular analysis of 17 patients with X-linked adrenoleukodystrophy syndrome.
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https://figshare.com/articles/dataset/_Molecular_analysis_of_17_patients_with_X_linked_adrenoleukodystrophy_syndrome_/403164
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资源简介：
*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.
创建时间：
2011-09-22
