Publication
| Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH, Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science292(5520):1394-8 2001 |
| PubMed ID: 11326085 |
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| Records Return:
(5)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM00696 | Female | 5 MO | 263 | sister | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH | GM |
| GM00694 | Female | 15 YR | 263 | sister | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH | GM |
| GM00695 | Male | 55 YR | 263 | father | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH | GM |
| GM00697 | Male | 17 YR | 263 | brother | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH | GM |
| GM00667 | Male | 12 YR | 263 | proband | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH | GM |
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