A Unique Case of Childhood Hypophosphatasia Caused by a Novel Heterozygous 51-Bp In-Frame Deletion in the ALPL Gene.
Clinical Pediatric Endocrinology(2023)
Key words
hypophosphatasia,ALPL,deletion,mutation,dominant-negative effect
AI Read Science
Must-Reading Tree
Example
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined