Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct
about
Corneal dystrophiesCongenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)The IC3D classification of the corneal dystrophiesCongenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.Genetics of the corneal endothelial dystrophies: an evidence-based review.Biology of the corneal endothelium in health and disease.Molecular bases of corneal endothelial dystrophies.Congenital corneal opacities: a review with a focus on genetics.Genomics and anterior segment dysgenesis: a review.Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci
P2860
Q21093170-6CBB77C3-3473-49DF-8BAE-92D87AE6BA60Q21202905-691E47EF-9EA7-474E-8EDE-877A4AC34EBFQ24625598-FEE1F4CD-14C6-4BBB-970E-3CAD3FDABADAQ34331533-54229009-3FC2-4582-AC3F-E4D61ECACDAAQ34344006-F7C479F1-E206-42FB-9286-CF73000BA22DQ35590395-F0A3B40E-5B42-474A-AB13-0CF722CF8EF8Q35739942-E4B24CF4-2074-4A63-9426-8523AA094E3EQ37039802-3C7B5A14-DEBB-415C-BBD0-D6F1728E5481Q38179068-8BE17017-8E78-4113-8652-6FDE644A0064Q57784968-92FB7DD4-02C2-46A9-9854-17C11C510228
P2860
Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Homozygosity mapping and linka ...... CHED are genetically distinct
@ast
Homozygosity mapping and linka ...... CHED are genetically distinct
@en
Homozygosity mapping and linka ...... CHED are genetically distinct
@nl
type
label
Homozygosity mapping and linka ...... CHED are genetically distinct
@ast
Homozygosity mapping and linka ...... CHED are genetically distinct
@en
Homozygosity mapping and linka ...... CHED are genetically distinct
@nl
prefLabel
Homozygosity mapping and linka ...... CHED are genetically distinct
@ast
Homozygosity mapping and linka ...... CHED are genetically distinct
@en
Homozygosity mapping and linka ...... CHED are genetically distinct
@nl
P2093
P2860
P356
P1476
Homozygosity mapping and linka ...... CHED are genetically distinct
@en
P2093
J S FitzSimon
L M Collum
M Callaghan
N A Parfrey
S M Kennedy
P2860
P304
P356
10.1136/BJO.83.1.115
P407
P577
1999-01-01T00:00:00Z