A novel CBFA1 mutation (R190W) in an Italian famil...[Hum Mutat. 2000] - PubMed Result

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1: Hum Mutat. 2000 Sep;16(3):277. Links

A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.

Giannotti A, Tessa A, Patrono C, Florio LD, Velardo M, Dionisi-Vici C, Bertini E, Santorelli FM.

Dept. of Genetics, Metabolism, and Molecular Medicine, Children's Hospital "Bambino Gesù", Rome, Italy.

PMID: 10980549 [PubMed - indexed for MEDLINE]

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A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.

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