Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.
about
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndromeMolecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypesMenkes disease: what a multidisciplinary approach can doMottled Mice and Non-Mammalian Models of Menkes DiseasePaul Dyken Lecture of the Southern Pediatric Neurology Society. Inherited neurodegenerative disease: the evolution of our thinking.Drug targets in Menkes disease - prospective developments.Metabolic cutis laxa syndromes.The mild form of menkes disease: a 34 year progress report on the original case.The Function of ATPase Copper Transporter ATP7B in Intestine.Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease.Scientific Opinion on Dietary Reference Values for copperNeuropathology of occipital horn syndrome.Menkes disease: case report of an uncommon presentation with white matter lesions.Clinical manifestations and treatment of Menkes disease and its variants
P2860
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P2860
Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
1996年學術文章
@zh-hant
name
Distinctive Menkes disease var ...... istory and clinical phenotype.
@en
Distinctive Menkes disease var ...... istory and clinical phenotype.
@nl
type
label
Distinctive Menkes disease var ...... istory and clinical phenotype.
@en
Distinctive Menkes disease var ...... istory and clinical phenotype.
@nl
prefLabel
Distinctive Menkes disease var ...... istory and clinical phenotype.
@en
Distinctive Menkes disease var ...... istory and clinical phenotype.
@nl
P2093
P2860
P1476
Distinctive Menkes disease var ...... istory and clinical phenotype.
@en
P2093
P2860
P356
10.1002/(SICI)1096-8628(19961002)65:1<44::AID-AJMG7>3.0.CO;2-Y
P577
1996-10-01T00:00:00Z