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Identification of five novel m...
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Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
Bibliografiska uppgifter
Huvudupphovsmän:
Loughlin, J
,
Irven, C
,
Mustafa, Z
,
Briggs, MD
,
Carr, A
,
Lynch, SA
,
Knowlton, R
,
Cohn, D
,
Sykes, B
Materialtyp:
Journal article
Språk:
English
Publicerad:
1998
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Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype.
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Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.
av: Holden, P, et al.
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Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.
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Publicerad: (1994)
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