Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1) and DXS1357E: A Novel Neonatal Phenotype Similar to Peroxisomal Biogenesis Disorders

X-linked adrenoleukodystrophy (X-ALD) results from mutations in ABCD1. ABCD1 resides on Xq28 and encodes an integral peroxisomal membrane protein (ALD protein [ALDP]) that is of unknown function and that belongs to the ATP-binding cassette–transporter superfamily. Individuals with ABCD1 mutations ac...

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Main Authors: Corzo, Deyanira, Gibson, William, Johnson, Kisha, Mitchell, Grant, LePage, Guy, Cox, Gerald F., Casey, Robin, Zeiss, Carolyn, Tyson, Heidi, Cutting, Garry R., Raymond, Gerald V., Smith, Kirby D., Watkins, Paul A., Moser, Ann B., Moser, Hugo W., Steinberg, Steven J.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2002
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC419992/
https://ncbi.nlm.nih.gov/pubmed/11992258
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