The Twist Gene, Although Not Disrupted In Saethre-Chotzen Patients With Apparently Balanced Translocations of 7p21, Is Mutated In Familial and Sporadic Cases

The TWIST gene maps to 7p21 and mutations in the gene have been reported in the Saethre-Chotzen form of craniosynostosis. The position of the Saethre-Chotzen gene has previously been refined by FISH analysis of four patients carrying balanced translocations involving 7p21 which suggested that it was...

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Veröffentlicht in:	Human molecular genetics 1997-08, Vol.6 (8), p.1369-1373
Hauptverfasser:	Rose, C.S. P., Patel, P., Reardon, W., Malcolm, S., Winter, R. M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acrocephalosyndactylia - genetics Biological and medical sciences Chromosomes, Human, Pair 7 Diseases of the osteoarticular system DNA Mutational Analysis Humans In Situ Hybridization, Fluorescence Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Mutation Nuclear Proteins Restriction Mapping Transcription Factors - genetics Translocation, Genetic Twist-Related Protein 1
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