D. D. Bernabé

The human homogentisate 1,2-dioxygenase (HGO) gene.

S. Rodríguez de Córdoba, M. Peñalva, S. R. Córdoba, 1997, Genomics.

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

M. Huynen, C. Walsh, F. Muntoni, 2005, Journal of Medical Genetics.

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome

F. Muntoni, H. Brunner, W. Dobyns, 2004, Journal of Medical Genetics.

FKRP mutation in a patient with Walker-Warburg syndrome

C Longman, Dbv de Bernabe, Martin Brockington, 2003 .

A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

B. Cormand, W. Dobyns, H. van Bokhoven, 2003, Journal of medical genetics.

Structural and functional analysis of mutations in alkaptonuria.

S. Rodríguez de Córdoba, D. Timm, J. Rodríguez, 2000, Human molecular genetics.

Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).

S. Rodríguez de Córdoba, S. R. Córdoba, D. Beltrán-Valero de Bernabé, 1999, American journal of human genetics.

Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.

I. Chiarelli, B. Porfirio, E. Mayatepek, 1998, American journal of human genetics.