Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
about
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disordersIdentification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male.Mutations in the Arabidopsis peroxisomal ABC transporter COMATOSE allow differentiation between multiple functions in planta: insights from an allelic series.A Novel Variant in ABCD1 Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia.
P2860
Q24561872-C436B4AE-4BF0-461A-9424-6A90FBF4AEE9Q34534494-B2EFC9EB-2121-4048-AAC8-1EEC657E93F4Q35636076-935DA1E9-FA2B-4A9B-A45C-7862F68C3E9DQ36316914-D645384C-96E4-40AB-8B59-8D02AEF59E13Q36943118-DAC2CCBA-A61F-4E93-9504-52ADD6738A8DQ37035100-12C3DAEB-5821-481D-B936-42742E96A651Q55285784-A1FCF3AB-8BC6-418A-8A21-93F2AD3B8B48
P2860
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Mutational and protein analysi ...... X-linked adrenoleukodystrophy.
@ast
Mutational and protein analysi ...... X-linked adrenoleukodystrophy.
@en
type
label
Mutational and protein analysi ...... X-linked adrenoleukodystrophy.
@ast
Mutational and protein analysi ...... X-linked adrenoleukodystrophy.
@en
prefLabel
Mutational and protein analysi ...... X-linked adrenoleukodystrophy.
@ast
Mutational and protein analysi ...... X-linked adrenoleukodystrophy.
@en
P2093
P2860
P1476
Mutational and protein analysi ...... X-linked adrenoleukodystrophy.
@en
P2093
Feigenbaum V
Lombard-Platet G
P2860
P304
P407
P577
1996-06-01T00:00:00Z