Two Angelman families with unusually advanced...

American Journal of Medical Genetics Part A 2018 / 05

Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform

Sadhwani, Anjali, Sanjana, Neville E., Willen, Jennifer M., Calculator, Stephen N., Black, Emily D., Bean, Lora J. H., Li, Hong, Tan, Wen-Hann
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Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.38831
Date:
May, 2018
File:
PDF, 652 KB
english, 2018
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