Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda

Chinese Journal of Medical Genetics

Volumn 25, Issue 1, 2008, Pages 15-18

  Zhou, Wan Jun ^a   Zhou, Shi Yuan ^b   Huang, Sheng Wen ^a   Zhou, Ji Ping ^b   Xu, Xiang Min ^a  

^a SOUTHERN MEDICAL UNIVERSITY   (China)

^b Henan Research Institute for Population and Family Planning   (China)

Author keywords

Denaturing high performance liquid chromatography; Gene mutation; X linked spondyloepiphyseal dysplasia tarda

Indexed keywords

GENOMIC DNA; LEUCINE; SERINE;

AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA FLANKING REGION; DNA SEQUENCE; EXON; FAMILY STUDY; GENE IDENTIFICATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE DETECTION; HUMAN; INTRON; MISSENSE MUTATION; MUTATOR GENE; PEDIGREE; PHENOTYPE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; RADIODIAGNOSIS; SEDL GENE; SPONDYLOEPIPHYSEAL DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA TARDA; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY; FEMALE; GENES, X-LINKED; GENOTYPE; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS;

EID: 44849109642     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

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