Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

Item
http://www.wikidata.org/entity/Q35882358
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

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

Item
http://www.wikidata.org/entity/Q35882358
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
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932