About: Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

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About: Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). Goto Sponge Distinct Permalink

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scientific article published on January 1991

Attributes	Values
rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 1991 (ast) 1991年學術文章 (zh) наукова стаття, опублікована в січні 1991 (uk) مقالة علمية نشرت في يناير 1991 (ar) scientific article published on January 1991 (en)
publication date	wds:Q37357403-7D3602F0-1A7F-461E-84AB-388A3BC45D66
publication date	1991-01-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37357403-4376C645-D010-4DF4-B3BF-4673C60E9513
language of work or name	English
cites work	wds:Q37357403-017318A1-77E0-4E76-8DF8-95859417FDC4 wds:Q37357403-019374F1-EC44-4AC3-8094-39428BF2748B wds:Q37357403-01ACFD23-9583-4037-9DFB-65D754A0B5F0 wds:Q37357403-021573C5-D411-4B95-8B8E-880E38451D7A wds:Q37357403-071403BC-6C28-4D78-9B14-2A97C9C0CECE wds:Q37357403-08B9BC4A-2B9A-41F7-BD4F-3C678D9EE33F wds:Q37357403-0D002CBE-C2EF-47C9-8062-72D083172833 wds:Q37357403-0DB8573D-066A-4867-9F33-71BF02613586 wds:Q37357403-0EB72B98-C44F-4737-BDD0-32164F473CED wds:Q37357403-24C1D7FB-788D-4F3F-AF94-FF1DDAF238B8 wds:Q37357403-2B25E967-163A-4216-8006-B80E5D066855 wds:Q37357403-32747F1A-C17F-4E03-A9A9-013E130A438A wds:Q37357403-3B93D6CD-27EE-4489-B03D-89E9C8BE4DD0 wds:Q37357403-46F3B39B-BE7C-4425-A874-17FCACD2F629 wds:Q37357403-4D2DA6EC-CF62-4E07-9FDA-BD8CD4F3C1B0 wds:Q37357403-75EE5252-95CF-49D9-B1F4-93F8DED5B3D6 wds:Q37357403-79F2DAA8-9C9D-4112-B5B8-CEA6850FE524 wds:Q37357403-90EE1118-6C28-40DA-BF32-4C8577CA2F2F wds:Q37357403-9351D379-3958-4ECA-9BB4-EADB50591FDC wds:Q37357403-A43E91F1-045B-45FC-9345-39D470A70F7A wds:Q37357403-AA059DBB-F1B1-4E23-9D31-E3BF6D32D229 wds:Q37357403-AF48171B-E78A-4C24-BB48-1942A350AC98 wds:Q37357403-B98E7F39-FAB1-4BD5-A3B4-7A34BE4764DB wds:Q37357403-C8E2424E-28A8-4DFF-8AB0-2D348F811F75 wds:Q37357403-CB2C1595-A55D-4272-98E6-D3DAAC2B8B53 wds:Q37357403-D3536752-D2CC-455C-A8A1-DB8D9E2D5C03 wds:Q37357403-D692BBFD-FA3C-42A4-B6A4-5C6BCFE3AE52
cites work	Nucleotide sequence of the gene for human factor IX (antihemophilic factor B) Variant of factor IX deficiency in female with 45, X Turner's syndrome The molecular basis of severe hemophilia B in a girl Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen Molecular cloning of the gene for human anti-haemophilic factor IX. Molecular pathology of haemophilia B Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency Ancient DNA: extraction, characterization, molecular cloning, and enzymatic amplification Gene deletions in patients with haemophilia B and anti-factor IX antibodies Possible gonadal mosaicism in a family with hemoglobin Köln Direct detection of point mutations by mismatch analysis: application to haemophilia B. Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG. A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male Molybdenum cofactors from molybdoenzymes and in vitro reconstitution of nitrogenase and nitrate reductase Isolation and characterization of a cDNA coding for human factor IX Review and hypotheses: somatic mosaicism: observations related to clinical genetics Comparison of phenotypic assessment and the use of two restriction fragment length polymorphisms in the diagnosis of the carrier state in haemophilia B. Mosaicism and sporadic haemophilia: implications for carrier determination Molecular analysis of hemophilia A mutations in the Finnish population Maternal duplication associated with gene deletion in sporadic hemophilia "Founder" effect in different families with haemophilia B mutation A somatic mosaic for haemophilia A detected at the DNA level. Germinal mosaicism in Duchenne muscular dystrophy Christmas disease (haemophilia B) in a girl with deletion of the short arm of one X-chromosome (functional Turner syndrome) Immunoassays of factor IX antigen using monoclonal antibodies Half chromatid mutations: transmission in humans?
author name string	wds:Q37357403-43006BEA-2362-4500-B7B2-4B5DD1104363 wds:Q37357403-D967B903-DBE9-40C6-B473-D9CB12E6CC14 wds:Q37357403-EEAAAEFE-0CC3-4DCB-B3D2-0204DC04C2C7
author name string	Taylor SA Deugau KV Lillicrap DP
rdfs:label	Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). (en) Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). (ast) Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (nl)
skos:prefLabel	Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). (en) Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). (ast) Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (nl)
name	Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). (en) Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). (ast) Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (nl)
title	wds:Q37357403-F07751F2-F5AB-4A37-9E08-DC2902D2EF60
title	Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). (en)
page(s)	wds:Q37357403-E88EC033-EA9D-4F32-9F26-C716B2932A34
page(s)	39-42
instance of	wds:Q37357403-9EC82BA3-539A-4FAF-A2F1-0A4FF5FE362D
instance of	scholarly article
main subject	wds:Q37357403-5A4C3847-48F5-4B0F-A7EE-123DD3D2D7F6 wds:Q37357403-822ED6B1-B793-42AC-9098-4F6D1852E738 wds:Q37357403-AB3CAF5A-D6B8-4792-89A3-853918386282

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