HIGHLIGHTS
- who: BMC Medical Genetics and collaborators from the Universitaire Limoges, Limoges, France have published the paper: Bio Med Central, in the Journal: (JOURNAL)
- what: The authors show here that a large part of mild HPP (i.e. childhood and adult HPP, odontohypophosphatasia, and perinatal benign HPP) is due to heterozygosity for missense mutations with a dominant negative effect, and that the other part is mostly due to compound heterozygosity for mild and severe alleles. By contrast, the study shows that allele C, the less frequent allele in European populations, is associated with haplotype E and . . .
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