About: Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in Causing Osteogenesis Imperfecta Type VI

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About: Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in Causing Osteogenesis Imperfecta Type VI Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в липні 2018 (uk)
publication date	wds:Q57146272-09579530-079F-4C98-B53F-0D406F15E3E8
publication date	2018-07-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57146272-A94E9761-DACC-49FC-99EE-67A721832B06
language of work or name	English
cites work	wds:Q57146272-06414760-C0AD-4580-AEEA-D8DCF96E69D6 wds:Q57146272-1AC68C00-A88E-49AC-A686-5DD6462DD8A6 wds:Q57146272-281E323A-2E97-4326-8688-710C69F67087 wds:Q57146272-2AB2C423-5C6F-4961-BDC1-41CA03F1E130 wds:Q57146272-3283FCFE-F08B-4626-8EB1-4FA735BB1B1F wds:Q57146272-3F0956BF-F1FC-4419-90C6-56A9F98D7304 wds:Q57146272-4BE32819-BD74-450D-B8F4-F66DE01FF436 wds:Q57146272-52BB1D83-9964-4D5D-83F7-3B4CE474E0E9 wds:Q57146272-533D3469-AAD3-44A7-A321-26A1D20B0D11 wds:Q57146272-55572C92-C0F5-451B-99C7-4A4CF3DED243 wds:Q57146272-58045C79-006A-478A-A360-33EA925A7346 wds:Q57146272-5D08A769-8976-4609-9269-0A0D7D99DAA5 wds:Q57146272-6091DA7B-77B4-4FFF-AA82-51226D1D78F4 wds:Q57146272-62683080-345C-4236-A506-17244DE55651 wds:Q57146272-62AEF1E7-D800-4D59-B96F-82A8253FE8C5 wds:Q57146272-7051E49E-2A7A-40BD-8AEE-35F38AD5A9FC wds:Q57146272-74C38C93-3582-47AF-8DFE-BD66BC4AA0D8 wds:Q57146272-86BDBD3E-3C7E-48F5-8E22-32A384B9D627 wds:Q57146272-87F4B53F-4F4A-4457-8670-B1E4F01C6C98 wds:Q57146272-9C94B4BB-41B0-4E54-93B5-30C7472BBBB6 wds:Q57146272-AE78BFB8-11DA-4D59-844A-F46D691CAA80 wds:Q57146272-B2C5BFC2-D9C1-409C-ACC8-0B3CC809BEBC wds:Q57146272-BA2DF605-62E0-473D-BBFE-CF2B75BC2245 wds:Q57146272-C1B62850-45CC-4746-982C-284A87747555 wds:Q57146272-CA3D147D-0716-4EFF-8BCD-CFD74B803C4A wds:Q57146272-CB7E67B9-6F5C-424D-BBD7-404F62FB4B5C wds:Q57146272-D8FC09F6-05C7-4A4B-A45B-036B4ECC313B wds:Q57146272-E8CDA50B-C771-4ACE-83A8-D44EF17553AD wds:Q57146272-EBE85ABD-16BA-4C82-B07F-26290A039211 wds:Q57146272-F8F6AAF2-DD68-4707-9F18-6AB8823E80A2
cites work	Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Analysis of protein-coding genetic variation in 60,706 humans Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta Mutations in SERPINF1 cause osteogenesis imperfecta type VI Pre-mRNA splicing and human disease Clinical whole-exome sequencing for the diagnosis of mendelian disorders New perspectives on osteogenesis imperfecta A global reference for human genetic variation Plasma concentration of pigment epithelium-derived factor in patients with diabetic retinopathy Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences Normative data for iliac bone histomorphometry in growing children. Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. Testing for osteogenesis imperfecta in cases of suspected non-accidental injury Characterization of PEDF: a multi-functional serpin family protein Next-generation sequencing for disorders of low and high bone mineral density DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations Mutations in patients with osteogenesis imperfecta from consanguineous Indian families. Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor A co-occurrence of osteogenesis imperfecta type VI and cystinosis Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families Osteogenesis Imperfecta Type VI in Individuals from Northern Canada The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI.
author name string	wds:Q57146272-067E34CB-A1BD-4B9C-B1AA-2DA41984908A wds:Q57146272-094A21CB-1A34-4D02-907D-3F734EDA1948 wds:Q57146272-32B061E9-324D-4659-9E72-1363E83EDC61 wds:Q57146272-4C582A6F-31DA-421B-9583-4272FA8251FC wds:Q57146272-5A26873A-8C6E-44B7-A3F6-D72A29D441AF wds:Q57146272-6D3CB045-8A7A-4BAA-B121-61E4AAFF81C6 wds:Q57146272-842A6EBC-5343-48C1-B80D-6E2E1A3CAA08 wds:Q57146272-B9BDF826-FCCD-4614-AFFC-06492CB7B119 wds:Q57146272-D8015E4B-BE34-4406-BDC8-426DEABA0513 wds:Q57146272-DEE6504B-4E7F-402B-A111-7F0639401ABE wds:Q57146272-E3C5F2DC-68E8-443E-B80B-EB20DB332FB3 wds:Q57146272-F2166937-F265-466F-BFA1-1973F6F0DC20 wds:Q57146272-F8AAAEDE-9A5C-425C-95C8-11924CEFFB63
author name string	Richard A Gibbs Shalini Jhangiani Mahim Jain Yi-Chien Lee Ming-Ming Jiang Yuqing Chen Brendan Lee Lindsay C Burrage Frank Rauch Zixue Jin V Reid Sutton Terry Bertin Alyssa Tran
rdfs:label	Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in Causing Osteogenesis Imperfecta Type VI (en) Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in Causing Osteogenesis Imperfecta Type VI (nl)
skos:prefLabel	Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in Causing Osteogenesis Imperfecta Type VI (en) Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in Causing Osteogenesis Imperfecta Type VI (nl)
name	Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in Causing Osteogenesis Imperfecta Type VI (en) Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in Causing Osteogenesis Imperfecta Type VI (nl)
title	wds:Q57146272-E1F20F07-FED6-4A9B-80D3-979D99AAF887

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