- Tytuł:
- A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
- Autorzy:
- Źródło:
-
European journal of human genetics : EJHG [Eur
J Hum Genet] 2007 Oct; Vol. 15 (10), pp. 1054-62. Date of Electronic Publication: 2007 Jul 04. - Typ publikacji:
- Journal Article; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Cyclic AMP Response Element-Binding Protein/*genetics
Muscular Atrophy, Spinal /*geneticsMuscular Atrophy, Spinal /*metabolism
Nerve Tissue Proteins/*genetics
RNA, Messenger/*analysis
RNA, Messenger/*genetics
RNA-Binding Proteins/*genetics
Reverse Transcriptase Polymerase Chain Reaction/*methods
Base Sequence ; Blood Cells/metabolism ; Case-Control Studies ; DNA Primers/genetics ; Exons ; Gene Dosage ; Humans ; Muscle, Skeletal/metabolism ;Muscular Atrophy, Spinal /blood ; RNA, Messenger/blood ; Reverse Transcriptase Polymerase Chain Reaction/statistics & numerical data ; SMN Complex Proteins ; Sensitivity and Specificity ; Sequence Deletion ; Survival of Motor Neuron 1 Protein ; Survival of Motor Neuron 2 Protein
Czasopismo naukowe