A novel splice site mutation in SMARCAL1...

American Journal of Medical Genetics Part A 2015 / 10 Vol. 167; Iss. 10

A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with schimke immunoosseous dysplasia

Carroll, Clinton, Hunley, Tracy E., Guo, Yan, Cortez, David
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Volume:
167
Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.37146
Date:
October, 2015
File:
PDF, 1.01 MB
english, 2015
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