Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling
Details
Serval ID
serval:BIB_359C54BAB25D
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling
Journal
PLoS Genet
ISSN
1553-7404 (Electronic)
ISSN-L
1553-7390
Publication state
Published
Issued date
05/2014
Volume
10
Number
5
Pages
e1004340
Language
english
Keywords
46, XY Disorders of Sex Development/*genetics, Acyltransferases/chemistry/*genetics/metabolism, Amino Acid Sequence, Animals, Female, Hedgehog Proteins/*metabolism, Homozygote, Humans, Lipoylation/*genetics, Male, Mice, Molecular Sequence Data, *Mutation, Missense, Pedigree, Sequence Homology, Amino Acid, Signal Transduction/*genetics, Testis/embryology
Pubmed
Create date
20/05/2019 13:40
Last modification date
30/04/2021 7:09