Publication
Ha VT, Marshall MK, Elsas LJ, Pinnell SR, Yeowell HN, A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene. J Clin Invest93:1716-21 1994 |
PubMed ID: 8163671 |
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Records Return:
(4)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM13426 | Female | 32 YR | 1611 | mother | EHLERS-DANLOS SYNDROME, TYPE VI | GM |
GM13425 | Male | 7 YR | 1611 | proband | EHLERS-DANLOS SYNDROME, TYPE VI | GM |
GM13427 | Male | 40 YR | 1611 | father | EHLERS-DANLOS SYNDROME, TYPE VI | GM |
GM05659 | Male | 1 YR | | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
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