Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda

Chinese Journal of Medical Genetics

Volumn 21, Issue 4, 2004, Pages 309-311

  Lu, Jun Feng ^a   Ma, Hong Wei ^a   Jiang, Jun ^a   Niu, Guo Hui ^a   Liu, Xiao Mei ^a  

^a CHINA MEDICAL UNIVERSITY   (China)

Author keywords

Polymerase chain reaction single strand conformation polymorphism; Spondyloepiphyseal dysplasia tarda gene; X linked spondyloepiphyseal dysplasia tarda

Indexed keywords

DNA;

ARTICLE; BONE DYSPLASIA; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; GENE; GENE MUTATION; HUMAN; MALE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; SEDL GENE; SINGLE STRAND CONFORMATION POLYMORPHISM; SPONDYLOEPIPHYSEAL DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA TARDA; X CHROMOSOME LINKAGE; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; CHILD; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; OSTEOCHONDRODYSPLASIAS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 3943107399     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

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