Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6

被引：10

作者：

Ion, A

Crosby, AH

Kremer, H

Kenmochi, N

Van Reen, M

Fenske, C

Van der Burgt, I

Brunner, HG

Montgomery, K

Kucherlapati, RS

Patton, MA

Page, DC

Mariman, E

Jeffery, S

机构：

[1] St Georges Med Sch, Med Genet Unit, London SW17 0RE, England

[2] Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

[3] Univ Ryukyus, Sch Med, Dept Biochem, Okinawa, Japan

[4] Albert Einstein Coll Med, Dept Mol Genet, Bronx, NY 10467 USA

[5] MIT, Howard Hughes Med Inst, Whitehead Inst, Cambridge, MA USA

[6] MIT, Dept Biol, Cambridge, MA USA

来源：

JOURNAL OF MEDICAL GENETICS | 2000年 / 37卷 / 11期

关键词：

D O I：

10.1136/jmg.37.11.884

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：884 / 886

页数：3

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