Publication
Dagenais SL, Adam AN, Innis JW, Glover TW, A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. Am J Hum Genet69(2):420-7 2001 |
PubMed ID: 11431706 |
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Records Return:
(1)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM01981 | Male | 2 YR | 80 | proband | MENKES SYNDROME | GM |
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