F. Kuhne

Type de document

Co-auteur

C. Zimmermann

D. Wilhelm

A. Vannier

P. A. Trainor

I. Stevant

F. Santoni

A. Rolland

M. D. Resh

S. Nef

F. Mugneret

A. Matevossian

P. Makrythanasis

S. Lambert

H. Kurosaka

B. Jegou

J. Jaruzelska

F. Huet

M. Guipponi

L. Faivre

B. Conne

P. Calvel

P. Callier

C. Borel

P. Bernard

S. E. Antonarakis

Source

Serveur académique Lausannois (1)

Mot-clé

protéine (1) mutation (1) perte (1) acide aminé (1) Development (1) Sex (1) Mice (1) Human beings (1) Animals (1) Amino acid sequence (1) Mutation (1)

Documents écrit par F. Kuhne (1) | parle de F. Kuhne (0)

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

P. Callier et al.