A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings
about
Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestationsCloning and characterization of a third human lysyl hydroxylase isoformCloning of the human prolyl 4-hydroxylase alpha subunit isoform alpha(II) and characterization of the type II enzyme tetramer. The alpha(I) and alpha(II) subunits do not form a mixed alpha(I)alpha(II)beta2 tetramerCloning and characterization of a novel human lysyl hydroxylase isoform highly expressed in pancreas and muscleThe molecular genetics of the Ehlers-Danlos syndrome.Ehlers-Danlos syndrome has varied molecular mechanisms.A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndromeAlu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndromeExome Sequence Analysis of 14 Families With High Myopia.COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.The Ehlers-Danlos syndromes, rare types.Site-directed mutagenesis of human lysyl hydroxylase expressed in insect cells. Identification of histidine residues and an aspartic acid residue critical for catalytic activity.Pyridinium cross-links in heritable disorders of collagen.Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI.Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.Identification of arginine-700 as the residue that binds the C-5 carboxyl group of 2-oxoglutarate in human lysyl hydroxylase 1.Collagen Hydroxylases and the Protein Disulfide Isomerase Subunit of Prolyl 4-Hydroxylases
P2860
Q22305374-3D85BB05-2C0F-4BE5-BF60-EDB6DE63DACBQ24310041-E5B452FF-06A1-4E7F-BD91-785715CEF9FDQ24315661-72542032-19A8-4C0C-A63C-D9977D58C9CAQ24324169-887C9DD1-4FB3-4527-B6EA-E5F8EA519940Q33610983-3A9E2FA0-339D-4065-8786-2B8EB91A0F8BQ33678835-EDCBBF8D-46C8-43D5-AD75-94139D80FBD3Q34140856-DAE4D459-585B-472C-816D-0E47A7D47063Q35239095-CADC30AC-9460-4072-A026-E0FF94E336F2Q35889560-83B27F32-DCC4-424A-821F-377BE6DBE120Q37739741-CF7EFFF2-47BF-4AC6-80D8-2F7535F96268Q38036904-25B1CE36-F2B1-4CE2-922F-85AD819077DAQ38743626-1D9ACE72-5E36-4139-80DA-DEAD4C043720Q41205074-78D93B3A-733D-447A-A984-113073F6883EQ42950954-DEB89244-24FF-4658-956E-27EABD179F56Q42950974-3703CB9F-B03D-41A7-8211-0020FE1F2543Q46902593-1F94730B-026B-4D9B-A64E-DC4D21692691Q52565746-F7F33570-3389-4C08-B71C-3968DAF73940Q56038109-D56E35DC-509C-44D5-B856-25EFBC397926
P2860
A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings
description
1993 nî lūn-bûn
@nan
1993 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
A large duplication in the gen ...... anlos syndrome in two siblings
@ast
A large duplication in the gen ...... anlos syndrome in two siblings
@en
A large duplication in the gen ...... anlos syndrome in two siblings
@en-gb
A large duplication in the gen ...... anlos syndrome in two siblings
@nl
type
label
A large duplication in the gen ...... anlos syndrome in two siblings
@ast
A large duplication in the gen ...... anlos syndrome in two siblings
@en
A large duplication in the gen ...... anlos syndrome in two siblings
@en-gb
A large duplication in the gen ...... anlos syndrome in two siblings
@nl
prefLabel
A large duplication in the gen ...... anlos syndrome in two siblings
@ast
A large duplication in the gen ...... anlos syndrome in two siblings
@en
A large duplication in the gen ...... anlos syndrome in two siblings
@en-gb
A large duplication in the gen ...... anlos syndrome in two siblings
@nl
P2093
P921
P356
P1433
P1476
A large duplication in the gen ...... anlos syndrome in two siblings
@en
P2093
J Heikkinen
K I Kivirikko
P304
P356
10.1006/GENO.1993.1074
P407
P577
1993-02-01T00:00:00Z