Abstract:
:Mutations in the human patched gene have recently been detected in patients with naevoid basal cell carcinoma syndrome. We have characterised a further 5 novel germ line mutations in patients presenting with multiple odontogenic keratocysts. Four mutations cause premature stop codons and one mutation results in an amino-acid substitution towards the carboxyl terminus of the predicted patched protein. No obvious genotype-phenotype correlations could be interpreted, consistent with previous studies.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Lench NJ,Telford EA,High AS,Markham AF,Wicking C,Wainwright BJdoi
10.1007/s004390050541subject
Has Abstractpub_date
1997-10-01 00:00:00pages
497-502issue
5-6eissn
0340-6717issn
1432-1203journal_volume
100pub_type
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