Quantitative Analysis of SMN1 Gene and Estimation of SMN1 Deletion Carrier Frequency in Korean Population based on Real-Time PCR

Spinal muscular atrophy (SMA) is an autosomal recessive disorder, caused by homozygous absence of the survival motor neuron gene (SMN1) in approximately 94% of patients. Since most carriers have only one SMN1 gene copy, several SMN1 quantitative analyses have been used for the SMA carrier detection....

Descripción completa

Detalles Bibliográficos
Autores principales: Lee, Tae-Mi, Kim, Sang-Wun, Lee, Kwang-Soo, Jin, Hyun-Seok, Koo, Soo Kyung, Jo, Inho, Kang, Seongman, Jung, Sung-Chul
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2004
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2816285/
https://www.ncbi.nlm.nih.gov/pubmed/15608400
http://dx.doi.org/10.3346/jkms.2004.19.6.870

Ejemplares similares

Ejemplares similares