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  • × ABCD1
 全选  【符合条件的数据共：9条】

1 Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype [期刊论文]

来源：BMC Medical Genetics

作者:Yong Dai;Junwang Wang;Keyun Zhang;等

关键词:Exome sequencing;Distinct phenotype;...

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2 Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype [期刊论文]

来源：BMC Medical Genetics

作者:Yong Dai;Junwang Wang;Keyun Zhang;等

关键词:Exome sequencing;Distinct phenotype;...

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3 X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management [期刊论文]

来源：Orphanet Journal of Rare Diseases

作者:Bwee Tien Poll-The;Patrick Aubourg;Ronald JA Wanders;等

关键词:Myelopathy;Addison’s disease;...

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4 Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms [期刊论文]

来源：Orphanet Journal of Rare Diseases

作者:Graziella Uziel;Monica Miozzo;Davide Pareyson;等

关键词:Allele-specific expression.;ABCD1;...

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5 Clinical, neuroimaging, biochemical, and genetic features in six Chinese patients with Adrenomyeloneuropathy [期刊论文]

来源：BMC Neurology , 2019

作者:Xiangqing Wang;Dehui Huang;Hongfen Wang;等

关键词:Adrenomyeloneuropathy;Addison disease;...

使用许可:Unknown

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6 Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms [期刊论文]

来源：Orphanet Journal of Rare Diseases

作者:Graziella Uziel;Monica Miozzo;Davide Pareyson;等

关键词:Allele-specific expression.;ABCD1;...

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