A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda

Human Heredity

Volumn 54, Issue 1, 2002, Pages 54-56

  Shi, Yi Ru ^a   Lee, Cheng Chun ^a   Hsu, Yu An ^a   Wang, Chung Hsing ^a   Tsaia, Fuu Jen ^a  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Nonsense mutataion; Sedlin (SEDL); X linked spondyloepiphyseal dysplasia tarda

Indexed keywords

ADENINE; CYTOSINE; CARRIER PROTEIN; TRANSCRIPTION FACTOR; TRAPPC2 PROTEIN, HUMAN;

ADOLESCENT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DNA EXTRACTION; EXON; GENE AMPLIFICATION; GENE SEQUENCE; HUMAN; MALE; NONSENSE MUTATION; SPONDYLOEPIPHYSEAL DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA TARDA; X CHROMOSOME LINKED DISORDER; CHONDRODYSPLASIA; GENETICS; STOP CODON;

ADOLESCENT; CARRIER PROTEINS; CODON, NONSENSE; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; OSTEOCHONDRODYSPLASIAS; TRANSCRIPTION FACTORS;

EID: 0036444759     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000066694     Document Type: Article

References (3)

1. Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, Tiller GE, Mulley JC, Gecz J: Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet 1999;22(4):400-404.
2. Whyte MP, Gottesman GS, Eddy MC, McAlister WH: X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature. Medicine (Baltimore) 1999;78(1):9-25.
3. Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC: The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet 2001;68(6):1386-1397.