SNP genotyping to screen for a common deletion in CHARGE Syndrome

BACKGROUND: CHARGE syndrome is a complex of birth defects including coloboma, choanal atresia, ear malformations and deafness, cardiac defects, and growth delay. We have previously hypothesized that CHARGE syndrome could be caused by unidentified genomic microdeletion, but no such deletion was detec...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Lalani, Seema R, Safiullah, Arsalan M, Fernbach, Susan D, Phillips, Michael, Bacino, Carlos A, Molinari, Laura M, Glass, Nancy L, Towbin, Jeffrey A, Craigen, William J, Belmont, John W
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2005
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC550653/
https://ncbi.nlm.nih.gov/pubmed/15710038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-6-8
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller