Publication
| Levran O, Desnick RJ, Schuchman EH, Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. Proc Natl Acad Sci U S A88:3748-52 1991 |
| PubMed ID: 2023926 |
|
| Records Return:
(8)
|
|
|
|
|
| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM02895 | Male | 2 YR | 328 | proband | NIEMANN-PICK DISEASE: TYPE UNSPECIFIED | GM |
| GM00559 | Female | 25 YR | | parent | NIEMANN-PICK DISEASE, TYPE A | GM |
| GM03252 | Female | 21 FW | | proband | NIEMANN-PICK DISEASE, TYPE A | GM |
| GM00406 | Female | 2 YR | | proband | NIEMANN-PICK DISEASE, TYPE A | GM |
| GM00370 | Female | 1 YR | | proband | NIEMANN-PICK DISEASE, TYPE A | GM |
| GM00165 | Male | 7 YR | | proband | NIEMANN-PICK DISEASE: TYPE UNSPECIFIED | GM |
| GM00112 | Male | 10 MO | | proband | NIEMANN-PICK DISEASE, TYPE A | GM |
| GM16193 | Male | | | proband | NIEMANN-PICK DISEASE, TYPE B | GM |
|
|
|