Mutations responsible for Larsen syndrome cluster in the FLNB protein

BACKGROUND: A gene for Larsen syndrome was recently described, and mutations were reported in five cases. OBJECTIVE: To test whether mutations in this gene, FLNB, could explain the disease in our independent collection of sporadic and dominant Larsen syndrome cases; and to test whether mutations occ...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Zhang, D, Herring, J A, Swaney, S S, McClendon, T B, Gao, X, Browne, R H, Rathjen, K E, Johnston, C E, Harris, S, Cain, N M, Wise, C A
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2006
Matèries:
Online Mutation Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564529/
https://ncbi.nlm.nih.gov/pubmed/16648377
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.038695
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars