Loumi O, Cuppens H, Bakour R, Benabadji M, Baghriche M, Marynen P, Cassiman J J
Center for Human Genetics, University of Leuven, Belgium.
Genet Couns. 1992;3(4):205-7.
When screening for the presence of major cystic fibrosis mutations in Algerian cystic fibrosis families by heteroduplex formation, aberrant heteroduplexes were observed for exon 10 in one family. Here we describe the clinical and molecular findings in a severely affected child of this family, homozygous for the 1609delCA and for the M470V polymorphism.
通过异源双链形成法对阿尔及利亚囊性纤维化家族进行主要囊性纤维化突变筛查时，在一个家族的第10外显子中观察到异常异源双链。在此，我们描述了该家族一名严重患病儿童的临床和分子学发现，该儿童为1609delCA和M470V多态性的纯合子。
