Llwytho...
The role of sterol-C4-methyl oxidase in epidermal biology
Deficiency of sterol C4 methyl oxidase, encoded by the SC4MOL gene, has recently been described in four patients from three different families. All of the patients presented with microcephaly, congenital cataracts, and growth delay in infancy. The first patient has suffered since the age of six year...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , |
|---|---|
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
2013
|
| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3943829/ https://ncbi.nlm.nih.gov/pubmed/24144731 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbalip.2013.10.009 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|