M. Bassi

Ocular albinism: evidence for a defect in an intracellular signal transduction system

A. Ballabio, K. Cortese, C. Tacchetti, 1999, Nature Genetics.

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

A. Ballabio, M. Gebbia, R. Lewis, 1995, Nature Genetics.

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.

A. Ballabio, M. De Luca, M. Clementi, 2000, Human molecular genetics.

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

A. Ballabio, T. Meitinger, B. Lorenz, 2000, Human Genetics.

cDNA cloning of human hnRNP protein A1 reveals the existence of multiple mRNA isoforms.

S. Riva, G. Biamonti, C. Morandi, 1988, Nucleic acids research.

Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders.

A. Ballabio, B. Franco, M. Bassi, 2000, Genomics.

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

G. Borsani, A. Ballabio, M. P. Sperandeo, 2000, American journal of human genetics.

A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22.

A. C. Chinault, A. Ballabio, H. Zoghbi, 1994, Human molecular genetics.