Diagnostic challenges due to phenocopies: Lessons from Multiple Endocrine Neoplasia type1 (MEN1)

Human Mutation

Volumn 31, Issue 1, 2010, Pages

  Turner, Jeremy J O ^a,b   Christie, Paul T ^a   Pearce, Simon H S ^c   Turnpenny, Peter D ^d   Thakker, Rajesh V ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

Author keywords

Calciumsensing receptor; CaSR; Familial hypocalciuric hypercalcaemia; FHH; HPT JT; HRPT2; Hyperparathyroidism type 2; Hyperparathyroidism jaw tumour syndrome; Pancreas; Parafibromin; Parathyroid

Indexed keywords

CALCIUM SENSING RECEPTOR; DNA;

ACROMEGALY; ARTICLE; CHROMOSOME 11Q; CODON; DIAGNOSTIC PROCEDURE; DNA EXTRACTION; DNA SEQUENCE; EXON; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; GENE AMPLIFICATION; GENE MUTATION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HYPERCALCEMIA; HYPERPARATHYROIDISM; JAW TUMOR; MAJOR CLINICAL STUDY; METABOLIC DISORDER; MOLECULAR GENETICS; MULTIPLE ENDOCRINE NEOPLASIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PARATHYROID TUMOR; PARATHYROIDECTOMY; PHENOCOPIES; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROLACTINOMA;

ADULT; FEMALE; HUMANS; HYPERCALCEMIA; HYPERPARATHYROIDISM; MALE; MIDDLE AGED; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; MUTATION; PANCREATIC NEOPLASMS; PARATHYROID NEOPLASMS; PHENOTYPE; PROTO-ONCOGENE PROTEINS; RECEPTORS, CALCIUM-SENSING; SEQUENCE ANALYSIS, DNA; TUMOR SUPPRESSOR PROTEINS;

EID: 74049094783     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21170     Document Type: Article

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