Two novel GALNT3 mutations in familial tumoral calcinosis

American Journal of Medical Genetics, Part A

Volumn 143, Issue 20, 2007, Pages 2390-2396

  Garringer, Holly J ^a   Mortazavi, Seyed Mohammad Javad ^b   Esteghamat, Fatemehsadat ^b   Malekpour, Mahdi ^b   Boztepe, Harika ^c   Tanakol, Refik ^c   Davis, Siobhan I ^a   White, Kenneth E ^a,d  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c ISTANBUL UNIVERSITY   (Turkey)

^d NONE   (United States)

Author keywords

FGF 23; FGF23; Fibroblast growth factor 23; GalNAc T3; Hyperphosphatemia; Phosphate; TC

Indexed keywords

COLECALCIFEROL; DNA; FIBROBLAST GROWTH FACTOR 23; GLYCOSYLTRANSFERASE; N ACETYLGALACTOSAMINE TRANSFERASE 3; N ACETYLGALACTOSAMINYLTRANSFERASE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CALCINOSIS; CARBOXY TERMINAL SEQUENCE; CASE REPORT; FAMILIAL DISEASE; FAMILIAL TUMORAL CALCINOSIS; FGF23 GENE; FRAMESHIFT MUTATION; GALNT3 GENE; GENE; GENE INSERTION; GENE MUTATION; HUMAN; MALE; MOLECULAR GENETICS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL;

AMINO ACID SEQUENCE; BASE SEQUENCE; CALCINOSIS; DNA MUTATIONAL ANALYSIS; FIBROBLAST GROWTH FACTORS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; N-ACETYLGALACTOSAMINYLTRANSFERASES;

EID: 34848889715     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31947     Document Type: Article

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