Publication
Hautala T, Heikkinen J, Kivirikko KI, Myllyla R, A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings. Genomics15:399-404 1993 |
PubMed ID: 8449506 |
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Records Return:
(2)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM01791 | Female | 9 YR | 105 | sister | EHLERS-DANLOS SYNDROME, TYPE VI | GM |
GM01790 | Female | 12 YR | 105 | proband | EHLERS-DANLOS SYNDROME, TYPE VI | GM |
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