A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree

Clinica Chimica Acta

Volumn 410, Issue 1-2, 2009, Pages 39-42

  Xia, Xin Yi ^a   Cui, Ying Xia ^a   Zhou, Yu Chun ^a   Zhou, Xin ^a   Shi, Yi Chao ^a   Wei, Li ^a   Li, Xiao Jun ^a   Huang, Yu Feng ^a   Huang, Ting Ting ^a  

^a MEDICAL SCHOOL OF NANJING UNIVERSITY   (China)

Author keywords

Insertion mutation; SEDL; Spondyloepiphyseal dysplasia tarda

Indexed keywords

CARRIER PROTEIN; DNA; RNA; SEDLIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BONE DYSPLASIA; CHILD; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; DNA SEQUENCE; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION; GENETIC VARIABILITY; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; LYMPHOCYTE; MALE; MUTATIONAL ANALYSIS; PEDIGREE; PHENOTYPE; PHENOTYPIC VARIATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCHOOL CHILD; SPONDYLOEPIPHYSEAL DYSPLASIA TARDA; STOP CODON; X CHROMOSOME LINKED DISORDER;

BASE SEQUENCE; CHINA; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTAGENESIS, INSERTIONAL; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 70350575238     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2009.09.016     Document Type: Article

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