Abstract:
:Congenital atrichia is a rare autosomal recessive disorder of hair development, characterized by complete loss of hair shortly after birth. Evidence of linkage to chromosome 8p12 has been established, implicating the human homolog of the mouse hairless (hr) gene as a candidate gene. We have previously identified missense mutations in families with congenital atrichia. Here, we report the first deletion mutation (2147del C) in exon 9 of the human hairless gene leading to a frameshift and downstream premature termination codon in five Palestinian families of Arab origin.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Zlotogorski A,Ahmad W,Christiano AMdoi
10.1007/s004390050840subject
Has Abstractpub_date
1998-10-01 00:00:00pages
400-4issue
4eissn
0340-6717issn
1432-1203journal_volume
103pub_type
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