Alström Syndrome: Mutation spectrum of ALMS1

Alström Syndrome, a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multi-system involvement including early cone-rod retinal dystrophy and blindness, hearing loss, childhood obesity, type 2 diabetes mellitus, cardiomyopathy, fibrosis and multiple organ fa...

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Detaylı Bibliyografya
Yayımlandı:Hum Mutat
Asıl Yazarlar: Marshall, Jan D., Muller, Jean, Collin, Gayle B., Milan, Gabriella, Kingsmore, Stephen F., Dinwiddie, Darrell, Farrow, Emily G., Miller, Neil A., Favaretto, Francesca, Maffei, Pietro, Dollfus, Hélène, Vettor, Roberto, Naggert, Jürgen K.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2015
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4475486/
https://ncbi.nlm.nih.gov/pubmed/25846608
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22796
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