Á lódáil...
Nijmegen breakage syndrome (NBS)
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encounte...
Na minha lista:
| Main Authors: | , , , , |
|---|---|
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
BioMed Central
2012
|
| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3314554/ https://ncbi.nlm.nih.gov/pubmed/22373003 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-13 |
| Clibeanna: |
Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!
|