Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly

The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal d...

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Veröffentlicht in:	Human genetics 1998-04, Vol.102 (4), p.387-392
Hauptverfasser:	VARGAS, F. R, ROESSLER, E, CORREIA, P, FELIX, T, GEREIGE, R, CUNNINGHAM, M. L, CANUN, S, ANTONARAKIS, S. E, STRACHAN, T, TSUI, L.-C, SCHERER, S. W, MUENKE, M, GAUDENZ, K, BELLONI, E, WHITEHEAD, A. S, KIRKE, P. N, MILLS, J. L, HOOPER, G, STEVENSON, R. E, CORDEIRO, I
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Base Sequence Biological and medical sciences Chromosomes, Human, Pair 7 Cloning, Molecular Diseases of the osteoarticular system Exons Hedgehog Proteins Humans Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Molecular Sequence Data Polydactyly - genetics Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Promoter Regions, Genetic Proteins - analysis Proteins - genetics Sacrococcygeal Region - abnormalities Sequence Analysis, DNA Thumb - abnormalities Trans-Activators
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