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BALDASSARI , Simona

Last name: BALDASSARI

First name: Simona

2013 (v1)

Publication

Metadata-only

Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families.

Traverso M Yuregir OO Mimouni Bloch A

No description

Uploaded on: April 14, 2023
2013 (v1)

Publication

Metadata-only

Novel FAM126A mutations in hypomyelination and congenital cataract disease.

Traverso M Assereto S Gazzerro E

No description

Uploaded on: March 27, 2023
2012 (v1)

Publication

Metadata-only

Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein.

Gazzerro E BALDASSARI, SIMONA Giacomini C

"Hypomyelination and Congenital Cataract", HCC (MIM #610532), is an autosomal recessive disorder characterized by congenital cataract and diffuse cerebral and peripheral hypomyelination. HCC is caused by deficiency of Hyccin, a protein whose biological role has not been clarified yet. Since the identification of the cell types expressing a...

Uploaded on: March 27, 2023