An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome.
about
Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance.Total Hip Arthroplasty in a Patient with Multicentric Carpotarsal Osteolysis: a Case Report.Genetics of cleft lip and cleft palate.MafB is critical for glucagon production and secretion in mouse pancreatic α-cells in vivo.MAFB Determines Human Macrophage Anti-Inflammatory Polarization: Relevance for the Pathogenic Mechanisms Operating in Multicentric Carpotarsal Osteolysis.Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by Mutation in AsianThree cases of multicentric carpotarsal osteolysis syndrome: a case series
P2860
Q34350319-107E7340-5548-4752-B6B3-25BB0C9F7A2DQ37026655-B69EA255-FFC3-42D6-ACFA-6807B9A656ECQ37587513-4C2D43A9-F9BB-4DE7-BED1-52C093D280D5Q47639721-98530C7B-44D9-4ACD-BD70-8FDDEB280B37Q48008754-E1C9AA67-D1E1-462B-A479-702E3A0F1B07Q54893160-8B88FF97-77A1-41F8-9295-82067446E7C0Q57300270-37975285-AA4B-4DF8-A030-7DCD3BCB9CA9Q57652745-9541405F-216C-494F-8BF3-41F430442D11
P2860
An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年學術文章
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2013年學術文章
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name
An incompletely penetrant nove ...... rpotarsal osteolysis syndrome.
@en
An incompletely penetrant novel MAFB
@nl
type
label
An incompletely penetrant nove ...... rpotarsal osteolysis syndrome.
@en
An incompletely penetrant novel MAFB
@nl
prefLabel
An incompletely penetrant nove ...... rpotarsal osteolysis syndrome.
@en
An incompletely penetrant novel MAFB
@nl
P2093
P356
P1476
An incompletely penetrant nove ...... rpotarsal osteolysis syndrome.
@en
P2093
Alina Hilger
Gabriel C Dworschak
Heiko Reutter
Michael Ludwig
P304
P356
10.3892/IJMM.2013.1373
P577
2013-05-10T00:00:00Z