Novel FA2H mutation in a girl with familial spastic paraplegia.
Complejo Hospitalario Torrecárdenas, Calle Hermandad de Donantes de Sangre s/n, 04009, Almeria, Spain.
Francisco Javier
FJ
Aguirre-Rodríguez
Complejo Hospitalario Torrecárdenas, Calle Hermandad de Donantes de Sangre s/n, 04009, Almeria, Spain.
María Isabel Rodríguez
MI
Lucenilla
LORGEN G.P., S.L., Business Innovation Center - BIC/CEEL, Technological area of Health Science, Av. de la Innovación 1, Granada 18016, Spain; Genetic Identification Laboratory, Legal Medicine and Toxicology Department, Medicine Faculty, University of Granada, Avda. de Madrid 11, Granada 18071, Spain; GENYO (Pfizer-University of Granada-Andalusian Government Centre for Genomics and Oncological Research), Granada, Spain. Electronic address: mjesusac@ugr.es.
M J
MJ
Alvarez-Cubero
LORGEN G.P., S.L., Business Innovation Center - BIC/CEEL, Technological area of Health Science, Av. de la Innovación 1, Granada 18016, Spain.
C
C
Mata
LORGEN G.P., S.L., Business Innovation Center - BIC/CEEL, Technological area of Health Science, Av. de la Innovación 1, Granada 18016, Spain.
C
C
Entrala-Bernal
LORGEN G.P., S.L., Business Innovation Center - BIC/CEEL, Technological area of Health Science, Av. de la Innovación 1, Granada 18016, Spain.
F
F
Fernandez-Rosado
D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D006801:Humans; D006899:Mixed Function Oxygenases / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis* / Q000235:genetics*
D018389:Codon, Nonsense; D006899:Mixed Function Oxygenases; C019081:fatty acid alpha-hydroxylase
Database; FA2H; New mutation; Nonsense; SPG35; Spastic paraplegias