A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village

Clinical Genetics

Volumn 64, Issue 1, 2003, Pages 28-35

  Bonafé, Luisa ^a   Giunta, C ^b   Gassner, M ^c   Steinmann, B ^b   Superti Furga, A ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c NONE

Author keywords

DLL3; Genetic cluster; Notch signaling; Spondylocostal dysostosis; Vertebral segmentation defects

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE CLUSTER; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC SCREENING; HAPLOTYPE; HOMOZYGOSITY; HUMAN; JARCHO LEVIN SYNDROME; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; NULL ALLELE; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SWITZERLAND;

DYSOSTOSES; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; RIBS; SEQUENCE ANALYSIS, DNA; SPINE;

EID: 0042632613     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00085.x     Document Type: Article

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