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A Novel Frameshift Mutation in Exon 23 of ATP7A (MNK) Results in Occipital Horn Syndrome and Not in Menkes Disease

Menkes disease and occipital horn syndrome (OHS) are allelic, X-linked recessive copper-deficiency disorders resulting from mutations in ATP7A, or MNK. Classic Menkes disease has a severe phenotype, with death in early childhood, whereas OHS has a milder phenotype, with, mainly, connective-tissue ab...

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Bibliografski detalji
Glavni autori: Dagenais, Susan L., Adam, Ayla N., Innis, Jeffrey W., Glover, Thomas W.
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2001
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235313/
https://ncbi.nlm.nih.gov/pubmed/11431706
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