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Missense Mutations in the Homeodomain of HOXD13 Are Associated with Brachydactyly Types D and E
HOXD13, the most 5′ gene of the HOXD cluster, encodes a homeodomain transcription factor with important functions in limb patterning and growth. Heterozygous mutations of human HOXD13, encoding polyalanine expansions or frameshifts, are believed to act by dominant negative or haploinsufficiency mech...
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| Autori principali: | , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
The American Society of Human Genetics
2003
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1180360/ https://ncbi.nlm.nih.gov/pubmed/12649808 |
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