Spinal Muscular Atrophy Genetic Testing Experience at an Academic Medical Center

Approximately 94% of spinal muscular atrophy (SMA) patients lack both copies of SMN1 exon 7. We report our SMA genetic testing experience (total 1281 cases), using SMA linkage analysis (32 families), SMA diagnostic testing by PCR-RFLP (restriction fragment length polymorphism) to detect the homozygo...

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Bibliografski detalji
Glavni autori: Ogino, Shuji, Leonard, Debra G. B., Rennert, Hanna, Wilson, Robert B.
Format: Artigo
Jezik:Inglês
Izdano: American Society for Investigative Pathology 2002
Teme:
Regular Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1906969/
https://ncbi.nlm.nih.gov/pubmed/11826188
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