Concepedia

Publication | Open Access

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

DOIFull Paper Access

25

Citations

14

References

2019

Year

Lisa G. Riley, Leigh B. Waddell, Roula Ghaoui, Frances J. Evesson, Beryl B. Cummings, Samantha J. Bryen, Himanshu Joshi, Min‐Xia Wang, Susan Brammah, Leonard Kritharides,
European Journal of Human Genetics

References

YearCitations

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