Publication
| Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, Zagzag D, Axelrod FB, Maayan C, Gusella JF, Slaugenhaupt SA, Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia American journal of human genetics72:749-58 2003 |
| PubMed ID: 12577200 |
|
| Records Return:
(5)
|
|
|
|
|
| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM05106 | Female | 12 YR | 816 | sister | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | GM |
| GM05110 | Male | 8 YR | 816 | brother | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | GM |
| GM05107 | Male | 41 YR | 816 | father | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | GM |
| GM05105 | Male | 10 YR | 816 | proband | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | GM |
| GM05043 | Female | 16 YR | 810 | sister | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | GM |
|
|
|