Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.
作者信息
Reboul M P, Bieth E, Fayon M, Biteau N, Barbier R, Dromer C, Desgeorges M, Claustres M, Bremont F, Lacombe D, Iron A
机构信息
Service de Génétique Médicale, CHU Pellegrin, Bordeaux, France.
出版信息
J Med Genet. 2002 Nov;39(11):e73. doi: 10.1136/jmg.39.11.e73.
Abstract
摘要
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Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.剪接突变1811 + 1.6kbA>G导致伴有胰腺功能不全的严重囊性纤维化：11例复合杂合子和2例纯合子患者的报告
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