MYO7A mutation screening in Usher syndrome type I patients from diverse origins.
Jaijo
T
T
Unidad de Genetica, Hospital Universitario La Fe, Valencia, Spain.
Aller
E
E
Beneyto
M
M
Najera
C
C
Graziano
C
C
Turchetti
D
D
Seri
M
M
Ayuso
C
C
Baiget
M
M
Moreno
F
F
Morera
C
C
Perez-Garrigues
H
H
Millan
J M
JM
D000595:Amino Acid Sequence; D018389:Codon, Nonsense; D018153:Czech Republic / Q000208:ethnology; D004252:DNA Mutational Analysis; D004398:Dyneins / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy / Q000208:ethnology; D008297:Male; D008969:Molecular Sequence Data; D009018:Morocco / Q000208:ethnology; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D022821:RNA Splice Sites / Q000235:genetics; D016415:Sequence Alignment; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid; D013030:Spain / Q000208:ethnology; D020080:Tandem Repeat Sequences; D014421:Turkey / Q000208:ethnology; D052245:Usher Syndromes / Q000208:ethnology / Q000235:genetics*
D018389:Codon, Nonsense; C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D022821:RNA Splice Sites; D009218:Myosins; D004398:Dyneins