Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
复制标题
腺苷脱氨酶缺乏症 (ADA-SCID) 导致的非常严重的联合免疫缺陷患者中新发现的错义突变的纯合性。
DOI:
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发表时间:
1991
影响因子:
9.8
通讯作者:
Douglas,SD
中科院分区:
文献类型:
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作者:
Hirschhorn,R;Chakravarti,V;Puck,J;Douglas,SD