A novel glycosyltransferase is mutated in a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan.

被引：0
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作者：
Brockington, M
Blake, DJ
Prandini, P
Brown, SC
Torelli, S
Benson, MA
Ponting, CP
Estournet, B
Romero, N
Voit, T
Sewry, CA
Guicheney, P
Muntoni, F
机构：
[1] Hammersmith Hosp, ICSM, Dubowitz Neuromusc Ctr, London, England
[2] Univ Oxford, Dept Human Anat & Genet, Oxford, England
[3] Univ Cagliari, Dept Cytomorphol, Cagliari, Italy
[4] Hpital Raymond Poincar, Garches, France
[5] Pitie Salpetriere, INSERM, U523, Paris, France
[6] Univ Essen Gesamthsch, Dept Paediat, Essen, Germany
[7] Robert Jones & Agnes Hunt Orthopaed Hosp, Dept Histopathol, Oswestry SY10 7AG, Shrops, England
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69卷 / 04期
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D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
268
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页码：229 / 229
页数：1
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