ITIH1Q0iwate, a null allele of inter-alpha-trypsin inhibitor H1 caused by deletion/frameshift mutation

SummaryThe molecular characterization of the first example of null allele in the inter-alpha-trypsin inhibitor H1 (ITIH1) system,ITIH1*Q0iwate, encountered as apparent inverse homozygosity of ITIH1 phenotypes between mother and child in a paternity case, is described. Single-strand conformation poly...

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Veröffentlicht in:	Journal of human genetics 1997-06, Vol.42 (2), p.363-368
Hauptverfasser:	Nakayashiki, Nori, Ding, Mei, Umetsu, Kazuo, Yuasa, Isao, Suzuki, Tsuneo, Aoki, Yasuhiro
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino acids Frameshift mutation Gene deletion Paternity Phenotypes Translation termination Trypsin
Online-Zugang:	Volltext
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