CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency

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http://www.wikidata.org/entity/Q28477227

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2011 nî lūn-bûn

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2011 թուականին հրատարակուած գիտական յօդուած

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2011 թվականին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency

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CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency

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CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency

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type

Item

label

CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency

@ast

CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency

@en

CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency

@nl

prefLabel

CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency

@ast

CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency

@en

CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency

@nl

P1476

CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency

@en

P2093

Alexandra E Kulle

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Chi-Chih Hung

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Daw-Yang Hwang

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Felix G Riepe

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Hung-Chun Chen

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Mei-Chuan Kuo

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Mei-Chyn Chao

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Richard J Auchus

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Shang-Jyh Hwang

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P2860

The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders

Mechanical devices of the spliceosome: motors, clocks, springs, and things.

A compensatory base change in U1 snRNA suppresses a 5' splice site mutation

Stimulation of GLUT-1 glucose transporter expression in response to hyperosmolarity.

A novel ultrapressure liquid chromatography tandem mass spectrometry method for the simultaneous determination of androstenedione, testosterone, and dihydrotestosterone in pediatric blood samples: age- and sex-specific reference data.

Comparison of splice sites in mammals and chicken.

Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17,20-lyase deficiency.

Using profiles based on nucleotide hydrophobicity to define essential regions for splicing.

Identification of a novel splicing mutation and 1-bp deletion in the 17alpha-hydroxylase gene of Japanese patients with 17alpha-hydroxylase deficiency.

SpliceDB: database of canonical and non-canonical mammalian splice sites.

P304

e25492

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P31

scholarly article

P356

10.1371/JOURNAL.PONE.0025492

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English

P433

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

P478

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P50

Paul-Martin Holterhus

P577

2011-01-01T00:00:00Z

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P5875

51687655

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P698

21966534

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P932

3180445

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