A novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidism

Bone

Volumn 51, Issue 3, 2012, Pages 629-632

  Ertl, Diana Alexandra ^a   Stary, Susanne ^b   Streubel, Berthold ^b   Raimann, Adalbert ^a   Haeusler, Gabriele ^a  

^a UNIV KLIN KINDER JUGENDHEILKUNDE   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

Isolated hypoparathyroidism; Novel mutation; PTH

Indexed keywords

CALCITRIOL; CALCIUM; CALCIUM CARBONATE; CALCIUM ION; PARATHYROID HORMONE;

ARTICLE; CALCIUM BLOOD LEVEL; CASE REPORT; CHILD; CLINICAL OBSERVATION; CONSANGUINITY; DISEASE SEVERITY; DRUG MEGADOSE; EXON; FEMALE; GENE; HOMOZYGOTE; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; NUCLEOTIDE SEQUENCE; PARATHYROID HORMONE BLOOD LEVEL; PARATHYROID HORMONE GENE; POINT MUTATION; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; HOMOZYGOTE; HUMANS; HYPOPARATHYROIDISM; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PARATHYROID HORMONE; PEDIGREE; SEQUENCE ALIGNMENT;

EID: 84864765535     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2012.06.009     Document Type: Article

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