A novel mutation in CA2+-sensing receptor gene in familial hypocalciuric hypercalcemia

Endocrine

Volumn 15, Issue 3, 2001, Pages 277-282

  Nakayama, Tomohiro ^a   Minato, Michiyoshi ^a   Nakagawa, Makio ^a   Soma, Masayoshi ^a   Tobe, Hideko ^a   Aoi, Noriko ^a   Kosuge, Kotoko ^a   Sato, Mikano ^a   Ozawa, Yukio ^a   Kanmatsuse, Katsuo ^a   Kokubun, Shinichiro ^a  

^a NIHON UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Familial; Gene; Hypercalcemia; Hypocalciuric; Mutation; Receptor

Indexed keywords

CALCIUM SENSING RECEPTOR; GLUTAMIC ACID; GLYCINE; CALCIUM-SENSING RECEPTOR; CELL SURFACE RECEPTOR;

ARTICLE; CASE REPORT; CODON; FAMILIAL DISEASE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPERCALCEMIA; HYPERPARATHYROIDISM; HYPOCALCIURIA; MALE; MASS SCREENING; MISSENSE MUTATION; NEWBORN; NEWBORN DISEASE; POLYMERASE CHAIN REACTION; PREMATURITY; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; ADULT; BLOOD; EXON; GENETICS; INFANT; MUTATION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; URINE;

ADULT; CASE REPORT; EXONS; HUMAN; HYPERCALCEMIA; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGE; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, CELL SURFACE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SUPPORT, NON-U.S. GOV'T;

EID: 17944366497     PISSN: 1355008X     EISSN: None     Source Type: Journal    
DOI: 10.1385/ENDO:15:3:277     Document Type: Article

References (35)