Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB
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The integrin adhesome network at a glanceManaging the patient with osteogenesis imperfecta: a multidisciplinary approach.Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaBeyond osteogenesis imperfecta: Causes of fractures during infancy and childhood.What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.Advances in the Classification and Treatment of Osteogenesis Imperfecta.Collagen Accumulation in Osteosarcoma Cells lacking GLT25D1 Collagen Galactosyltransferase.Bone Material Properties in Osteogenesis Imperfecta.Pharmacological and biological therapeutic strategies for osteogenesis imperfecta.Network based subcellular proteomics in monocyte membrane revealed novel candidate genes involved in osteoporosis.P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta.Heritable Skeletal Disorders Arising from Defects in Processing and Transport of Type I Procollagen from the ER: Perspectives on Possible Therapeutic Approaches.Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta.DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.
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P2860
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB
description
2015 nî lūn-bûn
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2015 թուականի Մարտին հրատարակուած գիտական յօդուած
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2015 թվականի մարտին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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name
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB
@ast
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB
@en
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB
@nl
type
label
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB
@ast
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB
@en
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB
@nl
prefLabel
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB
@ast
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB
@en
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB
@nl
P2093
P2860
P1476
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB
@en
P2093
Francis Glorieux
Frank Rauch
Hans-Peter Bächinger
Jacek Majewski
Jian Carrot-Zhang
John S Mort
Pierre Moffatt
Sergei Boudko
Somayyeh Fahiminiya
P2860
P304
P356
10.1016/J.AJHG.2014.12.027
P407
P577
2015-03-05T00:00:00Z