A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy:: clinical and pathogenetic overlap with collagen IX mutations

被引：25

作者：

Jakkula, E

Lohiniva, J

Capone, A

Bonafe, L

Marti, M

Schuster, V

Giedion, A

Eich, G

Boltshauser, E

Ala-Kokko, L

Superti-Furga, A

机构：

[1] CHU Vaudois, Div Mol Paediat, CH-1011 Lausanne, Switzerland

[2] Univ Oulu, Bioctr, Collagen Res Unit, Oulu, Finland

[3] Univ Oulu, Dept Med Biochem & Mol Biol, Oulu, Finland

[4] Univ Childrens Hosp, Div Paediat Neurol, Zurich, Switzerland

[5] Univ Childrens Hosp, Leipzig, Germany

[6] Univ Childrens Hosp, Div Radiol, Zurich, Switzerland

[7] Kantonsspital, Div Paediat Radiol, Aarau, Switzerland

[8] Tulane Univ, Hlth Sci Ctr, Ctr Gene Therapy, New Orleans, LA 70118 USA

[9] Tulane Univ, Hlth Sci Ctr, Dept Med, New Orleans, LA 70118 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 12期

关键词：

D O I：

10.1136/jmg.40.12.942

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：942 / 948

页数：7

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