Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE. (Q48477098)

11 February 2018

title

Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE. (English)

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11 February 2018

author

Pau-Chung Chen

4

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11 February 2018

Po-Nien Tsao

object named as

Po-Nien Tsao

3

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Wu-Shiun Hsieh

object named as

Wu-Shiun Hsieh

11

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author name string

Chia-Cheng Hung

1

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11 February 2018

Yi-Ning Su

2

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11 February 2018

Shio-Jean Lin

5

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11 February 2018

Cheng-Hui Lin

6

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11 February 2018

Shu-Chi Mu

7

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11 February 2018

Chieh-An Liu

8

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11 February 2018

Ying-Chao Chang

9

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11 February 2018

Win-Li Lin

10

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11 February 2018

Su-Ming Hsu

12

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11 February 2018

publication date

1 March 2007

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11 February 2018

published in

Electrophoresis

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11 February 2018

volume

28

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11 February 2018

issue

6

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11 February 2018

page(s)

894-899

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11 February 2018

Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.

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PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

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Genomic structure and functional characterization of NBPhox (PMX2B), a homeodomain protein specific to catecholaminergic cells that is involved in second messenger-mediated transcriptional activation

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The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives

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Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

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PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome

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Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease

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A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine

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Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

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Forensic DNA typing by capillary electrophoresis using the ABI Prism 310 and 3100 genetic analyzers for STR analysis

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DNA fragment analysis by an affordable multiple-channel capillary electrophoresis system

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Denaturing HPLC coupled with multiplex PCR for rapid detection of large deletions in Duchenne muscular dystrophy carriers.

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Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test.

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Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC.

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Denaturing high-performance liquid chromatography: A review

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Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children

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Ondine's curse and neurocristopathy

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Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development

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7 January 2021

Identifiers

DOI

10.1002/ELPS.200600383

1 reference

11 February 2018

PubMed ID

17300129

1 reference

11 February 2018