Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
about
From bowel to kidneys: the role of cubilin in physiology and diseaseDetailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario.Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.Absorption and blood/cellular transport of folate and cobalamin: Pharmacokinetic and physiological considerationsAn exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogsLmbrd1 expression is essential for the initiation of gastrulationSelective intestinal cobalamin malabsorption with proteinuria (Imerslund-Gräsbeck syndrome) in juvenile Beagles.Middle Eastern Adolescent With Macrocytic AnemiaAdvances in clinical determinants and neurological manifestations of B vitamin deficiency in adults.Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.Defective GIF does not bind CblImproving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
P2860
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P2860
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
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2012年學術文章
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2012年學術文章
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name
Inherited cobalamin malabsorpt ...... unctional and ethnic patterns.
@ast
Inherited cobalamin malabsorpt ...... unctional and ethnic patterns.
@en
type
label
Inherited cobalamin malabsorpt ...... unctional and ethnic patterns.
@ast
Inherited cobalamin malabsorpt ...... unctional and ethnic patterns.
@en
prefLabel
Inherited cobalamin malabsorpt ...... unctional and ethnic patterns.
@ast
Inherited cobalamin malabsorpt ...... unctional and ethnic patterns.
@en
P2093
P2860
P356
P1476
Inherited cobalamin malabsorpt ...... unctional and ethnic patterns.
@en
P2093
Amy C Sturm
Elizabeth C Baack
Sandya Liyanarachchi
Stephan M Tanner
P2860
P2888
P356
10.1186/1750-1172-7-56
P577
2012-08-28T00:00:00Z
P5875
P6179
1042005165