Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. (Q54768393)

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title

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. (English)

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author name string

Takanobu Otomo

1

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Takeshi Muramatsu

2

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Tohru Yorifuji

3

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Torayuki Okuyama

4

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Hiroki Nakabayashi

5

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Toshiyuki Fukao

6

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Toshihiro Ohura

7

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Makoto Yoshino

8

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Akemi Tanaka

9

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Nobuhiko Okamoto

10

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Koji Inui

11

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Keiichi Ozono

12

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Norio Sakai

13

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publication date

6 February 2009

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Journal of Human Genetics

published in

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volume

54

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issue

3

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page(s)

145-151

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https://scigraph.springernature.com/pub.10.1038/jhg.2009.3

exact match

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The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA.

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Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene

21 January 2018

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Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

21 January 2018

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When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients

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Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report

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Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population

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Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA

21 January 2018

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Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure

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Molecular order in mucolipidosis II and III nomenclature

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A case of mucolipidosis II: Biochemical, nutritional, and immunological studies

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Identifiers

DOI

10.1038/JHG.2009.3

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3 June 2018

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