Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.
作者信息
Auricchio A, Griseri P, Carpentieri M L, Betsos N, Staiano A, Tozzi A, Priolo M, Thompson H, Bocciardi R, Romeo G, Ballabio A, Ceccherini I
出版信息
Am J Hum Genet. 1999 Apr;64(4):1216-21. doi: 10.1086/302329.
Abstract
摘要
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