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A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.
PMID: 9246006 [PubMed - indexed for MEDLINE]
PMCID: PMC1715861
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Cited by 5 PubMed Central articles
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A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.
Dagenais SL, Adam AN, Innis JW, Glover TW.
Am J Hum Genet. 2001 Aug; 69(2):420-7. Epub 2001 Jun 26.
[Am J Hum Genet. 2001]
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Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.
Møller LB, Tümer Z, Lund C, Petersen C, Cole T, Hanusch R, Seidel J, Jensen LR, Horn N.
Am J Hum Genet. 2000 Apr; 66(4):1211-20. Epub 2000 Mar 17.
[Am J Hum Genet. 2000]
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Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.
Vockley J, Rogan PK, Anderson BD, Willard J, Seelan RS, Smith DI, Liu W.
Am J Hum Genet. 2000 Feb; 66(2):356-67.
[Am J Hum Genet. 2000]
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