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1:
Am J Hum Genet.
1997 Jul;61(1):233-8.
Links
A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.
Ronce N
,
Moizard MP
,
Robb L
,
Toutain A
,
Villard L
,
Moraine C
.
PMID: 9246006 [PubMed - indexed for MEDLINE]
PMCID: PMC1715861
Related Articles
Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome.
[Hum Mol Genet. 1998]
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.
[Am J Hum Genet. 2001]
Occipital Horn syndrome in a 2-year-old boy.
[Clin Dysmorphol. 1999]
Review
Mutation spectrum of ATP7A, the gene defective in Menkes disease.
[Adv Exp Med Biol. 1999]
Review
Prenatal diagnosis of Menkes disease.
[Prenat Diagn. 1998]
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