Genomic chronicle: SAMD 9 gene mutation in normophosphatemic familial tumoral calcinosis;Chronique génomique: Mutation du gène SAMD 9 dans la calcinose tumorale familiale normophosphatémique

Annales de Dermatologie et de Venereologie

Volumn 134, Issue 5, 2007, Pages 505-

  Dereure, O ^a  

^a HÔPITAL SAINT ELOI   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 23; GLYCOSYLTRANSFERASE; MESSENGER RNA; PHOSPHATE; PROTEIN; SAMD9 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DISORDER; FISTULA; GENE MUTATION; HYPERPHOSPHATEMIA; MUTATOR GENE; PHOSPHATURIA; SAMD9 GENE; SOFT TISSUE CALCIFICATION; TUMOR CALCINOSIS; ULCER; CALCINOSIS; GENETICS; HOMOZYGOTE; HUMAN; METABOLISM; MUTATION; SKIN TUMOR;

CALCINOSIS; HOMOZYGOTE; HUMANS; MUTATION; PHOSPHATES; PROTEINS; SKIN NEOPLASMS;

EID: 34548616086     PISSN: 01519638     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0151-9638(07)89230-1     Document Type: Article

References (1)

1. Topaz O, Indelman M, Chefetz I, Geiger D, Metzker A, Altschuler Y, et al. A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. Am J Hum Genet 2006;79:759-64.