Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia
Titel:
Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia
Auteur:
Hofmann, C. Liese, J. Schwarz, T. Kunzmann, S. Wirbelauer, J. Nowak, J. Hamann, J. Girschick, H. Graser, S. Dietz, K. Zeck, S. Jakob, F. Mentrup, B.