A. Bley

Type de document

Co-auteur

N.I. Wolf

A. Vanderver

N. Ulrick

R.J. Taft

A. Superti-Furga

I. Stolte-Dijkstra

D. Sival

R.J. Sinke

C. Simons

A. Pizzino

K. Ozono

T. Ogata

B.A. Neubauer

N. Miyake

D. Micha

N. Matsumoto

D. Lal

B.R. Lajoie

Z. Kingsbury

S. Kimura-Ohba

S. Humphray

A. Hahn

K.W. Gripp

J. Crawford

A. Conant

F.K. Cayami

D. Bulas

S.J. Bent

Source

Serveur académique Lausannois (1)

Mot-clé

région (1) protéine (1) nécrose (1) mutation (1) métabolisme (1) perte (1) analyse (1) gène (1) maladie (1) Deterioration (1) Defects (1) Phenotype (1) Dysplasia (1) Vision (1) Tremor (1) Symptoms (1) Spasticity (1) Pulmonary hypertension (1) Patients (1) Nystagmus (1) Neuropathy (1) Necrosis (1) Myelination (1) Months (1) Metabolism (1) Messenger RNA (1) Functions (1) Families (1) Evaluation (1) Defects (1)

Documents écrit par A. Bley (1) | parle de A. Bley (1)

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

N. Miyake et al.