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Journal description
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Details for article 12 of 16 found articles
| Title: |
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa |
| Author: |
Fischer-Zirnsak, Björn Escande-Beillard, Nathalie Ganesh, Jaya Tan, Yu Xuan Al Bughaili, Mohammed Lin, Angela E. Sahai, Inderneel Bahena, Paulina Reichert, Sara L. Loh, Abigail Wright, Graham D. Liu, Jaron Rahikkala, Elisa Pivnick, Eniko K. Choudhri, Asim F. Krüger, Ulrike Zemojtel, Tomasz van Ravenswaaij-Arts, Conny Mostafavi, Roya Stolte-Dijkstra, Irene Symoens, Sofie Pajunen, Leila Al-Gazali, Lihadh Meierhofer, David Robinson, Peter N. Mundlos, Stefan Villarroel, Camilo E. Byers, Peter Masri, Amira Robertson, Stephen P. Schwarze, Ulrike Callewaert, Bert Reversade, Bruno Kornak, Uwe |
| Appeared in: |
The American journal of human genetics |
| Paging: | Volume 97 (2015) nr. 3 pages 10 p. |
| Year: |
2015 |
| Contents: | |
| Publisher: |
The American Society of Human Genetics |
| Source file: |
Elektronische Wetenschappelijke Tijdschriften |
Details for article 12 of 16 found articles
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