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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Am J Hum Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2002
Soggetti:
Articles
Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC419992/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11992258/
https://ncbi.nlm.nih.govhttps://doi.org/10.1086/340849
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi