लोड हो रहा है...
Identification of a Novel C16orf57 Mutation in Athabaskan Patients with Poikiloderma with Neutropenia
Poikiloderma with Neutropenia (PN), Clericuzio-Type (OMIM #604173) is characterized by poikiloderma, chronic neutropenia, recurrent sinopulmonary infections, bronchiectasis, and nail dystrophy. First described by Clericuzio in 1991 in 14 patients of Navajo descent, it has since also been described i...
में बचाया:
| मुख्य लेखकों: | , , , , , , , , , , , |
|---|---|
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
2010
|
| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3069503/ https://ncbi.nlm.nih.gov/pubmed/21271650 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33807 |
| टैग : |
टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!
|