scholarly article | Q13442814 |
P356 | DOI | 10.1038/SJ.EJHG.5200743 |
P698 | PubMed publication ID | 11938437 |
P2093 | author name string | Pascale Guicheney | |
Valérie Allamand | |||
P2860 | cites work | Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan | Q24535942 |
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PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy | Q33680352 | ||
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The Peter Emil Becker Award lecture 1998. The saga of congenital muscular dystrophy | Q48166448 | ||
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy | Q71482663 | ||
Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy | Q73918582 | ||
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study | Q74601951 | ||
85th ENMC International Workshop on Congenital Muscular Dystrophy. 6th International CMD Workshop. 1st Workshop of the Myo-Cluster Project 'GENRE'. 27-28th October 2000, Naarden, The Netherlands | Q77316172 | ||
P433 | issue | 2 | |
P921 | main subject | congenital muscular dystrophy | Q1321884 |
congenital merosin-deficient muscular dystrophy 1A | Q5811448 | ||
P304 | page(s) | 91-94 | |
P577 | publication date | 2002-02-01 | |
P1433 | published in | European Journal of Human Genetics | Q2155433 |
P1476 | title | Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin) | |
P478 | volume | 10 |
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Q36462720 | New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families |
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