Gene symbol: FLNA. Disease: Ehlers-Danlos syndrome and periventricular nodular heterotopia.
Gomez-Garre
P
P
Laboratorio de Neurologfa, Fundación Jiménez Díaz, Avda. Reyes Católicos, Madrid, Spain. pggarre@telefonica.net
Serratosa
J M
JM
D019943:Amino Acid Substitution; D001927:Brain Diseases / Q000235:genetics*; D002552:Cerebral Ventricles / Q000473:pathology; D002828:Choristoma / Q000235:genetics; D018389:Codon, Nonsense; D003285:Contractile Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D064448:Filamins; D006801:Humans; D008840:Microfilament Proteins / Q000235:genetics*; D020125:Mutation, Missense
D018389:Codon, Nonsense; D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins