Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia

Clinica Chimica Acta

Volumn 360, Issue 1-2, 2005, Pages 167-172

  Lam, Ching Wan ^a   Lee, Ka Fai ^b   Chan, Angel On Kei ^c   Poon, Priscilla Miu Kuen ^a   Law, Tak Yin ^a   Tong, Sui Fan ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b KWONG WAH HOSPITAL   (Hong Kong)

^c QUEEN ELIZABETH HOSPITAL   (Hong Kong)

Author keywords

Calcium sensing receptor; CASR; Familial hypocalciuric hypercalcemia; Mutation

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHINESE; CHROMOSOME 3; CHROMOSOME 9; DNA FLANKING REGION; DNA SEQUENCE; FAMILY; FEMALE; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HYPOCALCEMIA; HYPOCALCIURIA; INCIDENCE; MISSENSE MUTATION; PRIORITY JOURNAL; PROGENY;

ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; HYPERCALCEMIA; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, CALCIUM-SENSING;

EID: 24044521944     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cccn.2005.04.026     Document Type: Article

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