Article
ITIH1*Q0iwate, a null allele of inter-alpha-trypsin inhibitor H1 caused by deletion/frameshift mutation.
The Japanese journal of human genetics - 1 Jun 1997
Nakayashiki N, Ding M, Umetsu K, Yuasa I, Suzuki T, Aoki Y
Abstract excerpt
The 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 polymorphism analysis and subsequent sequencing showed that deletion of a single nucleotide in the codon for Lys87 results in...
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