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A novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidism.
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A novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidism.
A novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidism. Bone. 2012 Sep; 51(3):629-32.
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PubMed
subject areas
Amino Acid Sequence
Base Sequence
Child
Child, Preschool
Female
Homozygote
Humans
Hypoparathyroidism
Infant
Male
Molecular Sequence Data
Mutation
Parathyroid Hormone
Pedigree
Sequence Alignment