Compound heterozygosity of two functional null mutations in...

Bone 2013 / 07 Vol. 55; Iss. 1

Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia

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.
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Volume:
55
Language:
english
Journal:
Bone
DOI:
10.1016/j.bone.2013.02.017
Date:
July, 2013
File:
PDF, 649 KB
english, 2013
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