Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia.
Giorda
R
R
Cerritello
A
A
Bonaglia
M C
MC
Bova
S
S
Lanzi
G
G
Repetti
E
E
Giglio
S
S
Baschirotto
C
C
Pramparo
T
T
Avolio
L
L
Bragheri
R
R
Maraschio
P
P
Zuffardi
O
O
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics*; D002460:Cell Line; D002675:Child, Preschool; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D003072:Cognition Disorders / Q000473:pathology; D006224:Cricetinae; D003598:Cytoskeletal Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000473:pathology; D000071821:Dystonin; D004933:Esophageal Atresia / Q000473:pathology*; D005260:Female; D020869:Gene Expression Profiling; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009132:Muscles / Q000378:metabolism; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D020033:Protein Isoforms / Q000235:genetics; D014138:Tracheoesophageal Fistula / Q000473:pathology*; D014178:Translocation, Genetic
D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; C486268:DST protein, human; D000071821:Dystonin; D009419:Nerve Tissue Proteins; D020033:Protein Isoforms