Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

Journal of Applied Genetics

Volumn 55, Issue 2, 2014, Pages 183-188

  Jamsheer, Aleksander ^a,b   Socha, Magdalena ^a   Sowińska Seidler, Anna ^a   Telega, Kinga ^a   Trzeciak, Tomasz ^a   Latos Bieleńska, Anna ^a,b  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b NZOZ Center for Medical Genetics   (Poland)

Author keywords

EXT1; EXT2; Hereditary multiple exostoses; Multiple osteochondromas; Mutation; Polish patients

Indexed keywords

ARTICLE; CLINICAL ARTICLE; DNA SPLICING; EXON; EXT1 GENE; EXT2 GENE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; INHERITANCE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; GENETIC PREDISPOSITION; GENETICS; POLAND;

EXOSTOSIN-1; EXOSTOSIN-2; N ACETYLGLUCOSAMINYLTRANSFERASE;

DNA MUTATIONAL ANALYSIS; EXOSTOSES, MULTIPLE HEREDITARY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION, MISSENSE; N-ACETYLGLUCOSAMINYLTRANSFERASES; POLAND;

EID: 84899440444     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/s13353-014-0195-z     Document Type: Article

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