Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.

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Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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name

Structural and functional diff ...... tral hypoventilation syndrome.

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Structural and functional diff ...... tral hypoventilation syndrome.

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Item

label

Structural and functional diff ...... tral hypoventilation syndrome.

@en

Structural and functional diff ...... tral hypoventilation syndrome.

@nl

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Structural and functional diff ...... tral hypoventilation syndrome.

@en

Structural and functional diff ...... tral hypoventilation syndrome.

@nl

P1476

Structural and functional diff ...... ntral hypoventilation syndrome

@en

P2093

Annalisa Adamo

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Silvia Cardani

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P2860

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

PHOX2B regulates its own expression by a transcriptional auto-regulatory mechanism

The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells

Distinct neuroblastoma-associated alterations of PHOX2B impair sympathetic neuronal differentiation in zebrafish models

Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series

Protein secondary structure prediction based on position-specific scoring matrices

Molecular analysis of congenital central hypoventilation syndrome

Sp proteins and Phox2b regulate the expression of the human Phox2a gene

An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation

P304

219-236

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scholarly article

P356

10.1002/HUMU.23365

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P433

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P478

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P50

P577

2017-11-21T00:00:00Z

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P698

29098737

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P921

congenital central hypoventilation syndrome

P932

5846889

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