ISSN:
1546-1718
Quelle:
Nature Archives 1869 - 2009
Thema:
Biologie
,
Medizin
Notizen:
[Auszug] Cranio-lenticulo-sutural dysplasia (CLSD) is an autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects mapped to chromosome 14q13–q21 (ref. 1). Here we show, using a positional cloning approach, that an F382L amino ...
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1038/ng1876
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