Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis

Journal of Human Genetics

Volumn 52, Issue 5, 2007, Pages 464-468

  Barbieri, Anna Maria ^a   Filopanti, Marcello ^a   Bua, Guido ^b   Beck Peccoz, Paolo ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b Servizio di Neurologia   (Italy)

Author keywords

Calcinosis; FGF23; GALNT3; Mutation; Phosphate

Indexed keywords

N ACETYLGALACTOSAMINYLTRANSFERASE; N ACETYLGALACTOSAMINYLTRANSFERASE 3; PHOSPHATE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; EXON; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHOSPHATE BLOOD LEVEL; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; STOP CODON; TUMOR CALCINOSIS;

CALCINOSIS; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; ITALY; MALE; N-ACETYLGALACTOSAMINYLTRANSFERASES; NEOPLASM PROTEINS; PEDIGREE;

EID: 34247615080     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0126-5     Document Type: Article

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