DETECTION OF AN INSERTION SEGMENT 8q11.2-q13 ONTO CHROMOSOME 6 IN A PATIENT WITH DUANE SYNDROME: IMPLICATIONS FOR MAPPING AND CLONING A DUANE GENE
- 2 Anni 1998/2000
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Pubblicazioni Scientifiche
- 2000-05-01 EUROPEAN JOURNAL OF HUMAN GENETICS
Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40kb
- 2002-12-01 INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a Duane syndrome patient
