Publication

Stefanini M, Vermeulen W, Weeda G, Giliani S, Nardo T, Mezzina M, Sarasin A, Harper JI, Arlett CF, Hoeijmakers JH, et al, A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy. Am J Hum Genet53(4):817-21 1993
PubMed ID: 8213812

Records Return:  (1) Show
 
Catalog IDGenderAge at SamplingDescription
GM15751Male16 YRTRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED