Germline PHOX2B mutation in hereditary neuroblastoma.
作者信息
Mosse Yael P, Laudenslager Marci, Khazi Deepa, Carlisle Alex J, Winter Cynthia L, Rappaport Eric, Maris John M
出版信息
Am J Hum Genet. 2004 Oct;75(4):727-30. doi: 10.1086/424530.
Abstract
摘要
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Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.
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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
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