Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene
about
Molecular basis of human carbonic anhydrase II deficiencyHuman carbonic anhydrase IV: cDNA cloning, sequence comparison, and expression in COS cell membranesThe forkhead transcription factor Foxi1 directly activates the AE4 promoterStructure of the carbonic anhydrase VI (CA6) gene: evidence for two distinct groups within the alpha-CA gene family.Exploring the genetic basis of early-onset chronic kidney disease.Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.Requirements for ion and solute transport, and pH regulation during enamel maturation.Competitive quantitative PCR analysis of herpes simplex virus type 1 DNA and latency-associated transcript RNA in latently infected cells of the rat brain.Novel regulators of Fgf23 expression and mineralization in Hyp boneHow rare bone diseases have informed our knowledge of complex diseases.Molecular dynamics study of human carbonic anhydrase II in complex with Zn(2+) and acetazolamide on the basis of all-atom force field simulationsPrediction of distal residue participation in enzyme catalysis.Carbonic Anhydrase II Deficiency in a Saudi Woman.Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany.
P2860
Q24562891-91F3CB33-B666-4DD8-850A-57B5DBB239BCQ24563089-4EDA2344-8170-4893-A939-6CAE9689B70EQ28513920-BE898D61-A760-422C-B063-36D90C2118A1Q30814914-78108572-ED2D-4D37-89F0-30CD7038E85FQ34508359-51640EEA-BC38-4501-85E9-45A7EAEDF747Q35888944-8D70DBB1-05D3-4AA9-B1F1-0F150BF01716Q36026725-BEBD5F58-164F-4F21-9527-99022B543DEDQ36630170-8907868B-E6BA-4393-AE88-A98E98264065Q37332408-617CDD45-531B-45A2-A0F1-826D623A2A33Q38968738-E0A03F97-945B-4B6E-8733-DD164FF6570CQ39731555-90E0A3C6-CB93-4CF0-8B6B-2CCBDF1AB66CQ40296149-EB52EE0E-C5E2-4A4C-9498-86A86B0CCBAEQ43131857-0C23ACC2-2083-4535-9F4C-6B76A8B11DD7Q52643458-D1E5C211-429F-4A9B-8763-BF267D56E616
P2860
Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene
description
1991 nî lūn-bûn
@nan
1991 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Carbonic anhydrase II deficien ...... of the normal human CA II gene
@ast
Carbonic anhydrase II deficien ...... of the normal human CA II gene
@en
Carbonic anhydrase II deficien ...... of the normal human CA II gene
@nl
type
label
Carbonic anhydrase II deficien ...... of the normal human CA II gene
@ast
Carbonic anhydrase II deficien ...... of the normal human CA II gene
@en
Carbonic anhydrase II deficien ...... of the normal human CA II gene
@nl
prefLabel
Carbonic anhydrase II deficien ...... of the normal human CA II gene
@ast
Carbonic anhydrase II deficien ...... of the normal human CA II gene
@en
Carbonic anhydrase II deficien ...... of the normal human CA II gene
@nl
P2093
P2860
P1476
Carbonic anhydrase II deficien ...... of the normal human CA II gene
@en
P2093
P2860
P304
P407
P577
1991-11-01T00:00:00Z