Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype.
about
Towards the targeted management of Chediak-Higashi syndromeFunctional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study.Neurologic involvement in patients with atypical Chediak-Higashi disease.A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase.Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.
P2860
Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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name
Chediak-Higashi syndrome: desc ...... divergent clinical phenotype.
@en
Chediak-Higashi syndrome: desc ...... divergent clinical phenotype.
@nl
type
label
Chediak-Higashi syndrome: desc ...... divergent clinical phenotype.
@en
Chediak-Higashi syndrome: desc ...... divergent clinical phenotype.
@nl
prefLabel
Chediak-Higashi syndrome: desc ...... divergent clinical phenotype.
@en
Chediak-Higashi syndrome: desc ...... divergent clinical phenotype.
@nl
P2093
P2860
P50
P356
P1476
Chediak-Higashi syndrome: desc ...... g divergent clinical phenotype
@en
P2093
Constantino Martínez
Francisco J Ortuño
Isabel Sánchez-Guiu
Jose L Fuster
Jose M Couselo
José Navarro-Fernández
Nuria García-Barberá
P2860
P356
10.1111/EJH.12203
P577
2013-10-24T00:00:00Z