Publication
| Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP, Different missense mutations at the tissue-nonspecific alkaline phosphatase gene
locus in autosomal recessively inherited forms of mild and severe
hypophosphatasia. Proc Natl Acad Sci U S A89(20):9924-8 1992 |
| PubMed ID: 1409720 |
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| Records Return:
(4)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM04234 | Female | 27 YR | 688 | mother | HYPOPHOSPHATASIA, INFANTILE | GM |
| GM04235 | Male | 5 MO | 688 | proband | HYPOPHOSPHATASIA, INFANTILE | GM |
| GM04236 | Male | 38 YR | 688 | father | HYPOPHOSPHATASIA, INFANTILE | GM |
| GM03859 | Female | 1 DA | | proband | HYPOPHOSPHATASIA, INFANTILE | GM |
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