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....

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Lee, Tae-Mi, Kim, Sang-Wun, Lee, Kwang-Soo, Jin, Hyun-Seok, Koo, Soo Kyung, Jo, Inho, Kang, Seongman, Jung, Sung-Chul
Format: Artigo
Langue:Inglês
Publié: The Korean Academy of Medical Sciences 2004
Sujets:
Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2816285/
https://ncbi.nlm.nih.gov/pubmed/15608400
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2004.19.6.870
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires