Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case
Yükleniyor...
Dosyalar
Tarih
2005
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
J Child Neurol
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
We screened 29 children with autism for mutation in the human
secretin gene using single-strand conformation polymorphism. No
mutation was detected in exon 2, 3, or 4. Polymerase chain reaction
and DNA sequence of 5´ variable number of tandem repeats
showed two polymorphisms with deletion or duplication of a
repeat unit that failed to show any gene expression with transient
transfection assay. We did not find evidence of a relationship
between human secretin gene mutation and autism.
Açıklama
Anahtar Kelimeler
Kaynak
J Child Neurol
WoS Q Değeri
Scopus Q Değeri
Cilt
20
Sayı
8
Künye
Sığırcı, A. Alkan, A. Kutlu, R. Gülcan, H. (2005). Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. J Child Neurol. 20- (8); 698-701.
