Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia
about
Genetic factors contributing to human primary ciliary dyskinesia and male infertilityTargeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.Cryo-electron tomography of motile cilia and flagellaCryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.Recent advances in primary ciliary dyskinesia genetics.Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.A new tool improves diagnostic test performance for transmission em evaluation of axonemal dynein arms.Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.
P2860
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P2860
Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia
description
2013 nî lūn-bûn
@nan
2013 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Founder mutation in RSPH4A ide ...... ith primary ciliary dyskinesia
@ast
Founder mutation in RSPH4A ide ...... ith primary ciliary dyskinesia
@en
type
label
Founder mutation in RSPH4A ide ...... ith primary ciliary dyskinesia
@ast
Founder mutation in RSPH4A ide ...... ith primary ciliary dyskinesia
@en
prefLabel
Founder mutation in RSPH4A ide ...... ith primary ciliary dyskinesia
@ast
Founder mutation in RSPH4A ide ...... ith primary ciliary dyskinesia
@en
P2093
P2860
P50
P356
P1433
P1476
Founder mutation in RSPH4A ide ...... ith primary ciliary dyskinesia
@en
P2093
Johnny L Carson
Maimoona A Zariwala
Margaret W Leigh
Maria Eriksson
Michael C Armstrong
Michael R Knowles
Milan Hazucha
Stephanie D Davis
P2860
P304
P356
10.1002/HUMU.22371
P577
2013-08-06T00:00:00Z