[Deletion of the short arm of chromosome 18 and trisomy 18 in a pair of siblings with unusual form of porphyria].
作者信息
Simon N, Hunyadi J, Szörényi A, Szemere G
出版信息
Hautarzt. 1973 May;24(5):185-9.
PMID:4753369
Abstract
摘要
相似文献
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[Deletion of the short arm of chromosome 18 and trisomy 18 in a pair of siblings with unusual form of porphyria].
Hautarzt. 1973 May;24(5):185-9.
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引用本文的文献
1
18p-Mosaicism: case report and review.
Hum Genet. 1978 Oct 31;44(2):213-7. doi: 10.1007/BF00295417.
2
Erythropoietic protoporphyria, heterozygous cystinuria, and reduced peptidase A activity in a patient with 46,XX/46,XX,18q--mosaicism.一名患有46,XX/46,XX,18q--嵌合体的患者出现红细胞生成性原卟啉症、杂合性胱氨酸尿症和肽酶A活性降低。
J Med Genet. 1978 Apr;15(2):157-60. doi: 10.1136/jmg.15.2.157.
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