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A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome

Boardman, JP; Syrris, P; Holder, SE; Robertson, NJ; Carter, N; Lakhoo, K; (2001) A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome. J MED GENET , 38 (9) 646 - 647.

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Type:Article
Title:A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome
Keywords:HIRSCHSPRUNG-DISEASE, RET, PROTOONCOGENE
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science

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