Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.

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Closing the gap: inverting the genetics curriculum to ensure an informed public.Inborn errors of cytoplasmic triglyceride metabolism.

P2860

Q37253411-8FFE0237-F4D4-4FFD-A633-5182F4326E9E Q38258625-46A81912-10E5-4325-A257-BBFEB5944E71

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Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.

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http://www.wikidata.org/entity/Q40301932

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2006 nî lūn-bûn

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

@wuu

2006年论文

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2006年论文

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Asymptomatic isolated human gl ...... -mediated decay of mutant RNA.

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Asymptomatic isolated human gl ...... -mediated decay of mutant RNA.

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prefLabel

Asymptomatic isolated human gl ...... -mediated decay of mutant RNA.

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P1476

Asymptomatic isolated human gl ...... -mediated decay of mutant RNA.

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Bing-Ling Huang

http://www.w3.org/2001/XMLSchema#string

Edward R B McCabe

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Hope Northrup

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Ishwarlal Jialal

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Katrina M Dipple

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Yao-Hua Zhang

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P2860

Splicing in action: assessing disease causing sequence changes

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families

Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans

Modifier genes convert "simple" Mendelian disorders to complex traits.

Killing the messenger: new insights into nonsense-mediated mRNA decay.

RNA surveillance by nuclear scanning?

A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.

Nonsense-mediated decay approaches the clinic.

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.

Glycerol kinase deficiency: evidence for complexity in a single gene disorder.

P2888

01.pdr.0000203092.83074.eb

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590-592

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scholarly article

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10.1203/01.PDR.0000203092.83074.EB

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English

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4 Pt 1

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P478

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P577

2006-04-01T00:00:00Z

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7228527

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P6179

1008659948

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P698

16549535

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Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.

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P2860

P2860

Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.

description

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type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P577

P5875

P6179

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P577

P5875

P6179

P698