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...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Langue:Inglês
Publié: BMJ Group 2006
Sujets:
Online Mutation Report
Accès en ligne: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
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