Publication
| Huynh C, Roth D, Ward DM, Kaplan J, Andrews NW, Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells. Proc Natl Acad Sci U S A101(48):16795-800 2004 |
| PubMed ID: 15557559 |
|
| Records Return:
(2)
|
|
|
|
|
| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM08148 | Female | 26 YR | 2016 | mother | CHROMOSOME DELETION | GM |
| GM02075 | Female | 1 YR | | proband | CHEDIAK-HIGASHI SYNDROME; CHS1 LYSOSOMAL TRAFFICKING REGULATOR, INCLUDED; LYST, INCLUDED | GM |
|
|
|