Identification of a novel polymorphism -: The duplication of the NPHP1 (nephronophthisis 1) gene

被引：14

作者：

Baris, Hagit

Bejjani, Bassem A.

Tan, Wen-Hann

Coulter, David L.

Martin, Judith A.

Storm, Andrea L.

Burton, Barbara K.

Saitta, Sulagna C.

Gajecka, Marzena

Ballif, Blake C.

Irons, Mira B.

Shaffer, Lisa G.

Kimonis, Virginia E.

机构：

[1] Childrens Hosp, Div Genet, Boston, MA 02115 USA

[2] Harvard Univ, Sch Med, Boston, MA USA

[3] Signature Genomic Labs LLC, Spokane, WA USA

[4] Washington State Univ, Hlth Res & Educ Ctr, Spokane, WA USA

[5] Childrens Hosp, Dept Neurol, Boston, MA 02115 USA

[6] Inland NW Genet Clin, Spokane, WA USA

[7] Childrens Hosp Cent Calif, Dept Med Genet & Metab, Madera, CA USA

[8] Childrens Mem Hosp, Dept Pediat, Chicago, IL 60614 USA

[9] Childrens Mem Hosp, Div Genet, Chicago, IL 60614 USA

[10] Northwestern Univ, Feinberg Sch Med, Chicago, IL 60611 USA

[11] Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA

[12] Univ Penn, Sch Med, Philadelphia, PA 19104 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2006年 / 140A卷 / 17期

关键词：

D O I：

10.1002/ajmg.a.31390

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1876 / 1879

页数：4

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