Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor

Journal of Bone and Mineral Research

Volumn 19, Issue 4, 2004, Pages 578-586

  Hu, Jianxin ^a,d   Mora, Stefano ^b   Weber, Giovanna ^b   Zamproni, Ilaria ^b   Proverbio, Maria Carla ^c   Spiegel, Allen M ^a  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Activating mutation; Autosomal dominant hypocalcemia; Human calcium receptor; Loop 2; Venus flytrap like domain

Indexed keywords

ARGININE; ASPARTIC ACID; CALCIUM ION; CALCIUM SENSING RECEPTOR; COMPLEMENTARY DNA; MUTANT PROTEIN; PHOSPHATIDYLINOSITIDE; CALCIUM;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CALCIUM METABOLISM; CASE REPORT; CELL STRAIN HEK293; FEMALE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; GERM LINE; HUMAN; HUMAN CELL; HYDROLYSIS; HYPOCALCEMIA; IMMUNOBLOTTING; IN VITRO STUDY; MISSENSE MUTATION; MOLECULAR BIOLOGY; MOLECULAR GENETICS; MONOZYGOTIC TWINS; MUTAGENESIS; MUTATIONAL ANALYSIS; PARENT; PATHOGENESIS; PERINATAL PERIOD; PHENOTYPE; PHOSPHOINOSITIDE METABOLISM; PROTEIN CONFORMATION; PROTEIN DOMAIN; PROTEIN EXPRESSION; RECEPTOR SENSITIVITY; RECEPTOR UPREGULATION; WILD TYPE; AMINO ACID SEQUENCE; BLOOD; CELL LINE; DNA SEQUENCE; DOMINANT GENE; GENE EXPRESSION; GENETICS; MALE; METABOLISM; MUTATION; PEDIGREE; PROTEIN TERTIARY STRUCTURE; SITE DIRECTED MUTAGENESIS;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CALCIUM; CELL LINE; FEMALE; GENE EXPRESSION; GENES, DOMINANT; GERM-LINE MUTATION; HUMANS; HYPOCALCEMIA; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, CALCIUM-SENSING; SEQUENCE ANALYSIS, DNA; TWINS, MONOZYGOTIC;

EID: 6344254775     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/JBMR.040106     Document Type: Article

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