Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.
Ben Rebeh
Imen
I
Unité Cibles pour le Diagnostic et la Thérapie, Centre de Biotechnologie de Sfax, Tunisie.
Morinière
Madeleine
M
Ayadi
Leila
L
Benzina
Zeineb
Z
Charfedine
Ilhem
I
Feki
Jamel
J
Ayadi
Hammadi
H
Ghorbel
Abdelmonem
A
Baklouti
Faouzi
F
Masmoudi
Saber
S
D000293:Adolescent; D000328:Adult; D000368:Aged; D017398:Alternative Splicing / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics; D002648:Child; D020090:Chromosome Segregation / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000150:complications* / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D018740:Genetic Heterogeneity; D005838:Genotype; D006367:HeLa Cells; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics*; D010375:Pedigree; D022821:RNA Splice Sites / Q000235:genetics; D012164:Retinal Diseases / Q000150:complications* / Q000235:genetics*; D040681:Structural Homology, Protein
C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D022821:RNA Splice Sites; D009218:Myosins