Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa - Concepedia

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Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

DOI Full Paper Access

86

Citations

41

References

2015

Year

Björn Fischer‐Zirnsak, Nathalie Escande‐Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Paulina Bahena, Sara L. Reichert, Abigail Loh,

The American Journal of Human Genetics

BiologyPyrroline-5-carboxylate Synthase CauseGeneticsMolecular GeneticsProgeroid FormGenomicsMedicineAutosomal-dominant Cutis LaxaMutagenesis

References

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