Newly discovered mutations in the GALNT3 gene causing auto-somal recessive hyperostosis-hyperphosphatemia syndrome

Acta Orthopaedica

Volumn 80, Issue 1, 2009, Pages 131-134

  Gok, Faysal ^a   Chefetz, Ilana ^b   Indelman, Margarita ^b,c   Kocaoglu, Murat ^a   Sprecher, Eli ^b,c  

^a UNIVERSITY OF HEALTH SCIENCES   (Turkey)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c RAMBAM MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

N ACETYLGALACTOSAMINYLTRANSFERASE; POLYPEPTIDE N ACETYLGALACTOSAMINYLTRANSFERASE; POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE;

ARTICLE; CALCINOSIS; CHILD; CONSANGUINITY; DIFFERENTIAL DIAGNOSIS; FEMALE; GENETICS; HUMAN; HYPEROSTOSIS; HYPERPHOSPHATEMIA; MALE; METABOLISM; NUCLEOTIDE SEQUENCE; RADIOGRAPHY; SYNDROME; TIBIA;

CALCINOSIS; CHILD; CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYPEROSTOSIS; HYPERPHOSPHATEMIA; MALE; N-ACETYLGALACTOSAMINYLTRANSFERASES; SYNDROME; TIBIA;

EID: 62849125091     PISSN: 17453674     EISSN: 17453682     Source Type: Journal    
DOI: 10.1080/17453670902807482     Document Type: Article

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