Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Johnson, David, Kan, Shih-hsin, Oldridge, Michael, Trembath, Richard C., Roche, Philippe, Esnouf, Robert M., Giele, Henk, Wilkie, Andrew O. M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2003
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180360/
https://ncbi.nlm.nih.gov/pubmed/12649808
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !