A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.

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Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

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P2860

A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.

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http://www.wikidata.org/entity/Q41837986

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2010 nî lūn-bûn

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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2010年论文

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2010年论文

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name

A simple method to confirm and ...... detected by sequence analysis.

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A simple method to confirm and ...... detected by sequence analysis.

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A simple method to confirm and ...... detected by sequence analysis.

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P1476

A simple method to confirm and ...... detected by sequence analysis.

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Bradford W Coffee

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Ephrem L H Chin

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Lawrence N Hjelm

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Lora J H Bean

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Madhuri R Hegde

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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

Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1

Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease

Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex

Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31

Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.

Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.

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607-610

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scholarly article

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10.2353/JMOLDX.2010.100011

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2010-07-15T00:00:00Z

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45271569

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20639189

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2928424

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A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.

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P2860

P2860

A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.

description

name

type

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prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P932