Publication
Pousi B, Hautala T, Heikkinen J, Pajunen L, Kivirikko KI, Myllyla R, Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers- Danlos syndrome. Am J Hum Genet55:899-906 1994 |
PubMed ID: 7977351 |
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Records Return:
(1)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM01790 | Female | 12 YR | 105 | proband | EHLERS-DANLOS SYNDROME, TYPE VI | GM |
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