Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans

Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARCI). However, not all genetic causes for...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Am J Hum Genet
Hoofdauteurs: Heinz, Lisa, Kim, Gwang-Jin, Marrakchi, Slaheddine, Christiansen, Julie, Turki, Hamida, Rauschendorf, Marc-Alexander, Lathrop, Mark, Hausser, Ingrid, Zimmer, Andreas D., Fischer, Judith
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2017
Onderwerpen:
Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5473727/
https://ncbi.nlm.nih.gov/pubmed/28575648
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.05.007
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items