Kościelak J, Lenkiewicz B, Zieleński J, Seyfried H
Vox Sang. 1986;50(3):187-90. doi: 10.1111/j.1423-0410.1986.tb04876.x.
A family is described in which an apparent Ay phenotype was transmitted through 2 generations. We favor a mutation of the A allele as the most likely cause of the phenotype. Activities of the serum A-gene-specified transferase were not detected in any of the 3 family members with the Ay phenotypes.
本文描述了一个家族,其中一种明显的Ay表型在两代人中传递。我们认为A等位基因突变是该表型最可能的原因。在3名具有Ay表型的家族成员中,均未检测到血清A基因特异性转移酶的活性。