Publication
| Roth DE, Venta PJ, Tashian RE, Sly WS, Molecular basis of human carbonic anhydrase II deficiency. Proc Natl Acad Sci U S A89(5):1804-8 1992 |
| PubMed ID: 1542674 |
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| Records Return:
(5)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM06119 | Female | 46 YR | 904 | paternal aunt | OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS | GM |
| GM06066 | Female | 32 YR | 904 | proband | OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS | GM |
| GM06087 | Female | 30 YR | 904 | sister | OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS | GM |
| GM06071 | Female | 25 YR | 904 | sister | OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS | GM |
| GM06073 | Male | 56 YR | 904 | father | OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS | GM |
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