Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AA→G shows a severe phenotype

被引：4

作者：

Kilinç, MO

Ninis, VN

Tolun, A

Estivill, X

Casals, T

Savov, A

Dagli, E

Karakoç, F

Demirkol, M

Hüner, G

Özkinay, F

Demir, E

Seculi, JL

Pena, J

Bousono, C

Ferrer-Calvete, J

Calvo, C

Glover, G

Kremenski, I

机构：

[1] Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey

[2] IROIRO, Dept Genet, Barcelona, Spain

[3] Univ Sofia, Obstet & Gynecol HOsp, Lab Mol Pathol, BU-1126 Sofia, Bulgaria

[4] Marmara Univ Hosp, Istanbul, Turkey

来源：

JOURNAL OF MEDICAL GENETICS | 2000年 / 37卷 / 04期

关键词：

D O I：

10.1136/jmg.37.4.307

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：307 / 309

页数：3

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