Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.
about
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndromeHomozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3A thiol proteinase inhibitor, E-64-d, corrects the abnormalities in concanavalin A cap formation and the lysosomal enzyme activity in leucocytes from patients with Chediak-Higashi syndrome by reversing the down-regulated protein kinase C activityGenetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13Comparative genomics and host resistance against infectious diseasesIdentification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.Shared pathways to infectious disease susceptibility?Neutrophil disorders and their management.Albinism: modern molecular diagnosisChemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocolChediak-Higashi Syndrome: A Case Series from Karnataka, India.Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping.A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase.
P2860
Q24313435-B3DDE623-E1FF-4BEC-854D-3A6A77C4BFFDQ24320302-E66DB94D-552D-4B59-854E-5794584A015CQ24539037-2CC01A3D-B901-4593-B2DA-408B029E3C26Q24561574-D45ABD79-D5F2-4B81-AA06-D97F6F6D7F01Q28347638-F990EDD8-7528-4335-B011-CB1C1D5B725AQ33330773-7C2B98BF-243C-47F0-A292-C643B3E51B41Q33542428-41C8DAE6-B633-47F1-90D2-04627BF1F8BEQ33853623-459EE5F2-24DF-41FB-8657-92C43B9C8E08Q34152877-9C4C24F0-5B5A-415E-8F41-CCFB5551D6A8Q34197117-E9F59A81-1380-4AE4-9F9F-126EA1B3BC19Q34470405-64E0206E-426F-4C0E-BB8C-D401C666596FQ35525318-0F5DB047-D249-4D00-B365-6B4A6CD4D82CQ36147854-6A0C2D63-76E2-416C-A028-704BFE255813Q37363234-EA8FE0F3-EAD4-413F-8DB3-4BA4C1DAC03FQ42353280-31B1053C-A702-4B8D-83C4-DCD4E62A38B9
P2860
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.
@ast
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.
@en
type
label
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.
@ast
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.
@en
prefLabel
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.
@ast
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.
@en
P2093
P2860
P1476
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.
@en
P2093
Lagelouse RD
Le Paslier D
Pastural E
Weissenbach J
de Saint Basile G
P2860
P304
P407
P577
1996-09-01T00:00:00Z