Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses

Journal of Human Genetics

Volumn 44, Issue 4, 1999, Pages 230-234

  Park, Kyu Joo ^a   Shin, Ki Hyuk ^a   Ku, Ja Lok ^a   Cho, Tae Joon ^b   Lee, Sang Hoon ^b   Choi, In Ho ^b   Phillipe, Christophe ^c   Monaco, Anthony P ^d   Porter, Daniel E ^e   Park, Jae Gahb ^a  

^a Seoul National University College of Medicine   (South Korea)

^b Seoul National University   (South Korea)

^c UNIVERSITY HOSPITAL OF NANCY   (France)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

EXT1; EXT2; Germline mutation

Indexed keywords

AMINO ACID; ARGININE; CYSTEINE; DNA;

AMINO ACID SUBSTITUTION; ARTICLE; DNA SEQUENCE; EXON; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GERM LINE; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; HUMAN TISSUE; LONG BONE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

CHILD, PRESCHOOL; EXOSTOSES, MULTIPLE HEREDITARY; FEMALE; GENE DELETION; GERM-LINE MUTATION; HUMANS; KOREA; MALE; MUTATION, MISSENSE; N-ACETYLGLUCOSAMINYLTRANSFERASES; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS;

EID: 13044316711     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050149     Document Type: Article

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