Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations
about
Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindredsMolecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complexA C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome familyPhenylbutyrate therapy for maple syrup urine disease.Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strainsMassive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion.E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.Compensatory signals associated with the activation of human GC 5' splice sitesA simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.Stable correction of maple syrup urine disease in cells from a Mennonite patient by retroviral-mediated gene transfer.Defects in RNA splicing and the consequence of shortened translational reading frames.
P2860
Q24533417-EB2C7B23-F321-47F6-A72C-770F33D900E5Q24605337-601E176E-A4C4-4AA7-B0E5-4430811F9A2FQ24672679-3E29AF91-CC53-4F55-AC2D-469117D5A55AQ24678781-46342272-A2A8-4981-808B-17360354329CQ34505609-B97079A9-CA98-4075-A757-D538D42BA99FQ35882074-6D4C074F-3D27-438C-9E39-F9E38391D1BCQ36326993-D0E60BB9-A8A1-4534-83ED-5D076943FC1FQ37370859-4E9BBF72-A317-4BBB-A922-869ACF144E26Q38319037-5A5946F6-313D-4BB6-BCFC-99E709D8DBAFQ41837986-33A1D721-5FA7-4B96-8FBD-6EFA398CDCFDQ42161152-93091442-AE30-488A-AF68-BB6BEC0AD394Q42590534-B5D5181D-0709-4B24-A57C-58785D33BE7F
P2860
Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations
description
1993 nî lūn-bûn
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1993 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի փետրվարին հրատարակված գիտական հոդված
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1993年の論文
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1993年学术文章
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1993年学术文章
@zh-cn
1993年学术文章
@zh-hans
1993年学术文章
@zh-my
1993年学术文章
@zh-sg
1993年學術文章
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name
Occurrence of a 2-bp (AT) dele ...... ondary effect of the mutations
@ast
Occurrence of a 2-bp (AT) dele ...... ondary effect of the mutations
@en
Occurrence of a 2-bp (AT) dele ...... ondary effect of the mutations
@nl
type
label
Occurrence of a 2-bp (AT) dele ...... ondary effect of the mutations
@ast
Occurrence of a 2-bp (AT) dele ...... ondary effect of the mutations
@en
Occurrence of a 2-bp (AT) dele ...... ondary effect of the mutations
@nl
prefLabel
Occurrence of a 2-bp (AT) dele ...... ondary effect of the mutations
@ast
Occurrence of a 2-bp (AT) dele ...... ondary effect of the mutations
@en
Occurrence of a 2-bp (AT) dele ...... ondary effect of the mutations
@nl
P2093
P2860
P1476
Occurrence of a 2-bp (AT) dele ...... ondary effect of the mutations
@en
P2093
P2860
P304
P407
P577
1993-02-01T00:00:00Z