Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.
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Development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta.Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family.Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.
P2860
Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 10 January 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.
@en
Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.
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type
label
Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.
@en
Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.
@nl
prefLabel
Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.
@en
Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.
@nl
P2093
P2860
P1476
Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.
@en
P2093
Adrienne Moul
Amanda Alladin
Cristina Navarrete
George Abdenour
Maria M Rodriguez
P2860
P304
P356
10.3109/15513815.2012.754528
P577
2013-01-10T00:00:00Z