How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?: Reply

被引：1

作者：

Antonarakis, SE

Reymond, A

Menzel, O

Bekkeheien, RCJ

Fukai, N

Boye, E

Kosztoianyi, G

Aftimos, S

Deutsch, S

Scott, HS

Olsen, BR

Guipponi, M

机构：

[1] Univ Geneva, Sch Med, Dept Genet Med & Dev, CH-1211 Geneva 4, Switzerland

[2] Univ Pecs, Dept Med Genet, Pecs, Hungary

[3] Starship Childrens Hosp, Dept Clin Genet, Auckland, New Zealand

[4] Harvard Univ, Sch Med, Dept Cell Biol, Boston, MA USA

[5] Univ Lausanne, Ctr Integrat Genom, Lausanne, Switzerland

来源：

HUMAN MUTATION | 2005年 / 25卷 / 03期

关键词：

D O I：

10.1002/humu.20140

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：316 / 316

页数：1

共 5 条

[1] HFE gene and hereditary hemochromatosis:: A HuGE review [J].

Hanson, EH ;

Imperatore, G ;

Burke, W .

AMERICAN JOURNAL OF EPIDEMIOLOGY, 2001, 154 (03) :193-206

[2] Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome [J].

Marneros, AG ;

Olsen, BR .

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 (06) :2367-2372

[3] Knobloch syndrome:: Novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin [J].

Menzel, O ;

Bekkeheien, RCJ ;

Reymond, A ;

Fukai, N ;

Boye, E ;

Kosztolanyi, G ;

Aftimos, S ;

Deutsch, S ;

Scott, HS ;

Olsen, BR ;

Antonarakis, SE ;

Guipponi, M .

HUMAN MUTATION, 2004, 23 (01) :77-84

[4] How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? [J].

Suzuki, OT ;

Bagatini, K ;

Sertié, AL ;

Passos-Bueno, MR .

HUMAN MUTATION, 2005, 25 (03) :314-315

[5] Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line [J].

Utriainen, A ;

Sormunen, R ;

Kettunen, M ;

Carvalhaes, LS ;

Sajanti, E ;

Eklund, L ;

Kauppinen, R ;

Kitten, GT ;

Pihlajaniemi, T .

HUMAN MOLECULAR GENETICS, 2004, 13 (18) :2089-2099

← 1 →