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

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

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

Hum Mutat. 2000 Sep;16(3):277. doi: 10.1002/1098-1004(200009)16:3<277::AID-HUMU25>3.0.CO;2-V.

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10980549 [ View in PubMed
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Polypeptides
NameUniProt ID
Runt-related transcription factor 2Q13950Details