Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation
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Kidney stone disease.Molecular mechanisms and regulation of urinary acidificationA novel murine protein with no effect on iron homoeostasis is homologous with transferrin and is the putative inhibitor of carbonic anhydraseThe divergence, actions, roles, and relatives of sodium-coupled bicarbonate transportersOn the effect of protein conformation diversity in discriminating among neutral and disease related single amino acid substitutions.Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit.Clinical review: Renal tubular acidosis--a physicochemical approachProximal renal tubular acidosis: a not so rare disorder of multiple etiologiesInherited renal acidoses.A single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis.Expression of Carbonic Anhydrase I in Motor Neurons and Alterations in ALSClinical approach to renal tubular acidosis in adult patients.Transcriptomic, proteomic, and metabolomic landscape of positional memory in the caudal fin of zebrafish.Genetic, pathophysiological, and clinical aspects of nephrocalcinosis.Molecular dynamics study of human carbonic anhydrase II in complex with Zn(2+) and acetazolamide on the basis of all-atom force field simulationsAssociation of possible osteopetrosis with acute myeloid leukaemia in a child.Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosisA Case of Carbonic Anhydrase Type 2 Deficiency Syndrome with Autistic Disorder.Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.Carbonic Anhydrase II Deficiency in a Saudi Woman.Activity and distribution of intracellular carbonic anhydrase II and their effects on the transport activity of anion exchanger AE1/SLC4A1.Multiple calcifying pseudoneoplasms of the neuraxis (MCAPNON): Distinct entity, CAPNON variant, or old neurocysticercosis?Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families.Carbonic anhydrase II in the developing and adult human brain.Genetics of Osteopetrosis.Genetic causes and mechanisms of distal renal tubular acidosis.The neurology of carbonic anhydrase type II deficiency syndrome.Antioxidant Activity, Acetylcholinesterase, and Carbonic Anhydrase Inhibitory Properties of Novel Ureas Derived from Phenethylamines.Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep ApneaLinks Between Hypertension and Osteoporosis: Benidipine Ameliorates Osteoporosis in Ovariectomized Hypertensive Rats Through Promotion of Osteoblast Proliferation and Inhibition of Osteoclast Differentiation
P2860
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P2860
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation
description
2004 nî lūn-bûn
@nan
2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Carbonic anhydrase II deficien ...... genotype-phenotype correlation
@ast
Carbonic anhydrase II deficien ...... genotype-phenotype correlation
@en
Carbonic anhydrase II deficien ...... genotype-phenotype correlation
@nl
type
label
Carbonic anhydrase II deficien ...... genotype-phenotype correlation
@ast
Carbonic anhydrase II deficien ...... genotype-phenotype correlation
@en
Carbonic anhydrase II deficien ...... genotype-phenotype correlation
@nl
prefLabel
Carbonic anhydrase II deficien ...... genotype-phenotype correlation
@ast
Carbonic anhydrase II deficien ...... genotype-phenotype correlation
@en
Carbonic anhydrase II deficien ...... genotype-phenotype correlation
@nl
P2093
P3181
P356
P1433
P1476
Carbonic anhydrase II deficien ...... genotype-phenotype correlation
@en
P2093
Giuseppe Bonapace
Gul N Shah
Peiyi Y Hu
Pietro Strisciuglio
William S Sly
P3181
P356
10.1002/HUMU.9266
P407
P577
2004-09-01T00:00:00Z