Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.
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The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosisX-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional studyClinical neurogenetics: recent advances.Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy.Granny trips down: is she carrying the big bad wolf?
P2860
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P2860
Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Preferential expression of mut ...... nrelated to clinical symptoms.
@ast
Preferential expression of mut ...... nrelated to clinical symptoms.
@en
type
label
Preferential expression of mut ...... nrelated to clinical symptoms.
@ast
Preferential expression of mut ...... nrelated to clinical symptoms.
@en
prefLabel
Preferential expression of mut ...... nrelated to clinical symptoms.
@ast
Preferential expression of mut ...... nrelated to clinical symptoms.
@en
P2093
P2860
P50
P356
P1476
Preferential expression of mut ...... nrelated to clinical symptoms.
@en
P2093
Caterina Mariotti
Davide Pareyson
Ettore Salsano
Marco Rimoldi
Patrizia Colapietro
P2860
P2888
P356
10.1186/1750-1172-7-10
P50
P577
2012-01-26T00:00:00Z
P5875
P6179
1041427080