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Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

โœ Scribed by Kunkel, Louis M.; Scharf, Jeremiah M.; Endrizzi, Matthew G.; Wetter, Axel; Huang, Sidong; Thompson, Terri G.; Zerres, Klaus; Dietrich, William F.; Wirth, Brunhilde


Book ID
109581049
Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
530 KB
Volume
20
Category
Article
ISSN
1061-4036

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Approximately 95% of individuals with spinal muscular atrophy (SMA) lack both copies of the SMNt gene at 5q13. The presence of a nearly identical centromeric homolog of the SMNt gene, SMNc, necessitates a quantitative polymerase chain reaction approach to direct carrier testing. Adapting a radioacti