Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. (Q35103799)

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7 February 2020

title

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability (English)

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7 February 2020

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Kelley W Moremen

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author name string

Muhammad Arshad Rafiq

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Andreas W Kuss

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Lucia Puettmann

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Abdul Noor

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Annapoorani Ramiah

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Ghazanfar Ali

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Hao Hu

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Nadir Ali Kerio

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Yong Xiang

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Muzammil Ahmad Khan

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Gisele E Ishak

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Rosanna Weksberg

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Reinhard Ullmann

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Andreas Tzschach

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Khalid Mahmood

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Farooq Naeem

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Muhammad Ayub

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John B Vincent

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Hans Hilger Ropers

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Muhammad Ansar

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language of work or name

English

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publication date

1 July 2011

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American Journal of Human Genetics

7 February 2020

published in

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volume

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issue

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page(s)

176-182

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The genetic basis of non-syndromic intellectual disability: a review

7 February 2020

cites work

1 reference

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Rational vector design and multi-pathway modulation of HEK 293E cells yield recombinant antibody titers exceeding 1 g/l by transient transfection under serum-free conditions

9 July 2018

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Energetics of substrate binding and catalysis by class 1 (glycosylhydrolase family 47) alpha-mannosidases involved in N-glycan processing and endoplasmic reticulum quality control

9 July 2018

1 reference

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The epidemiology of mental retardation: challenges and opportunities in the new millennium

9 July 2018

1 reference

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Cloning and expression of a specific human alpha 1,2-mannosidase that trims Man9GlcNAc2 to Man8GlcNAc2 isomer B during N-glycan biosynthesis

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135808

Identification, expression, and characterization of a cDNA encoding human endoplasmic reticulum mannosidase I, the enzyme that catalyzes the first mannose trimming step in mammalian Asn-linked oligosaccharide biosynthesis

9 July 2018

1 reference

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Prevalence of lysosomal storage disorders

9 July 2018

1 reference

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Cloning, expression, purification, and characterization of the acid alpha-mannosidase from Trypanosoma cruzi

9 July 2018

1 reference

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The prevalence of mental retardation: a critical review of recent literature.

9 July 2018

1 reference

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Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135808

Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135808

Mechanism of class 1 (glycosylhydrolase family 47) {alpha}-mannosidases involved in N-glycan processing and endoplasmic reticulum quality control

27 September 2018

1 reference

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X-linked mental retardation

27 September 2018

1 reference

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Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations

27 September 2018

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27 September 2018

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10.1016/J.AJHG.2011.06.006

27 September 2018

Identifiers

DOI

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7 February 2020

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PubMed publication ID

21763484

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