Mutations in the Ca2+-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism

Human Molecular Genetics

Volumn 5, Issue 5, 1996, Pages 601-606

  Baron, Jeffrey ^a   Winer, Karen K ^a   Yanovski, Jack A ^a   Cunningham, Adrienne W ^a   Laue, Louisa ^a,b   Zimmerman, Donald ^c   Cutler Jr , Gordon B ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^c MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; PARATHYROID HORMONE; PARATHYROID HORMONE RECEPTOR;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CALCIUM ABSORPTION; CALCIUM BLOOD LEVEL; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HYPERCALCIURIA; HYPOPARATHYROIDISM; HYPOTHESIS; KIDNEY CELL; KIDNEY DISEASE; MALE; MISSENSE MUTATION; PARATHYROID HORMONE RELEASE; PRIORITY JOURNAL; PROTEIN DOMAIN; RECEPTOR GENE;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CALCIUM; CHILD; FEMALE; GENES, DOMINANT; HETEROZYGOTE; HUMANS; HYPOPARATHYROIDISM; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE;

EID: 0029985394     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.5.601     Document Type: Article

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