Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4

Clinical Genetics

Volumn 64, Issue 3, 2003, Pages 235-242

  Shaw, M A ^a,b   Brunetti Pierri, N ^c   Kadasi L ^d   Kovacova V ^e   Van Maldergem, L ^f   De Brasi, D ^c   Salerno, M ^c   Gécz, Jozef ^a,b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d INSTITUTE OF MOLECULAR PHYSIOLOGY AND GENETICS   (Slovakia)

^e Derer 's University Hospital Slovakia   (Slovakia)

^f INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

Author keywords

Alternative splicing; Non canonical splice site; Novel mutation; SEDL; Spondyloepiphyseal dysplasia tarda; Xp22

Indexed keywords

ADENINE; CYTOSINE; GENE PRODUCT; GUANINE; RNA; SEDLIN; TYROSINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; BELGIUM; CASE REPORT; CHROMOSOME XP; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FAMILY STUDY; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HUMAN CELL; INTRON; ITALY; MALE; NUCLEOTIDE SEQUENCE; OSTEOARTHRITIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SHORT STATURE; SLOVAKIA; SPINE RADIOGRAPHY; SPONDYLOEPIPHYSEAL DYSPLASIA; X CHROMOSOME RECESSIVE DISORDER;

ADOLESCENT; ADULT; CARRIER PROTEINS; CHILD, PRESCHOOL; EXONS; FRAMESHIFT MUTATION; HUMANS; INTRONS; ITALY; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PUBERTY, DELAYED; RNA SPLICE SITES; RNA SPLICING; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

INSERTION SEQUENCES;

EID: 0042412248     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00132.x     Document Type: Article

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