A novel KERA mutation associated with autosomal recessive cornea plana.
about
LRRCE: a leucine-rich repeat cysteine capping motif unique to the chordate lineageMutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2.Axial Lengths in Children with Recessive Cornea Plana.Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation.Two brothers with reduced vision.Analysis of KERA in four families with cornea plana identifies two novel mutations.Corneal decompensation in recessive cornea plana.Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.Posterior amorphous corneal dystrophy caused by a de novo deletion.
P2860
Q27487873-6CFEADE8-7261-4E5A-8810-62B7C88C5286Q33690049-0C0F7844-BABA-4913-84FD-D7CF6C5B3DCDQ34022571-F47FA8A7-3EE4-4E63-A8A4-DD9CFA5F56C8Q34635967-CE57F613-1444-4AF0-8C36-AAC9106CF465Q35058764-03CE8F19-830B-4D07-B56E-B48584DC7FD0Q35156016-C1581360-16CC-4F4A-A910-FDA043DB2FDAQ35671036-A6092CD9-7481-424D-A833-76D2E6AC1E4CQ43006685-99E659FB-B34F-4FFE-B082-6EE63E1A97DDQ47099830-0378D447-4342-43BB-9951-2BC706ADF89EQ47823510-8AE3BB26-7506-4071-BD54-22E4E5232CD2Q48397639-F4486266-3540-403F-B37D-8C0EA64E06ABQ54940023-5221D485-4B08-479D-8E4A-C3C52F7C7641Q55059680-F7546A48-5DB1-426E-9366-656D7445856C
P2860
A novel KERA mutation associated with autosomal recessive cornea plana.
description
2004 nî lūn-bûn
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2004 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հունիսին հրատարակված գիտական հոդված
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2004年の論文
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2004年論文
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2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
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2004年论文
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name
A novel KERA mutation associated with autosomal recessive cornea plana.
@ast
A novel KERA mutation associated with autosomal recessive cornea plana.
@en
A novel KERA mutation associated with autosomal recessive cornea plana.
@nl
type
label
A novel KERA mutation associated with autosomal recessive cornea plana.
@ast
A novel KERA mutation associated with autosomal recessive cornea plana.
@en
A novel KERA mutation associated with autosomal recessive cornea plana.
@nl
prefLabel
A novel KERA mutation associated with autosomal recessive cornea plana.
@ast
A novel KERA mutation associated with autosomal recessive cornea plana.
@en
A novel KERA mutation associated with autosomal recessive cornea plana.
@nl
P2093
P1433
P1476
A novel KERA mutation associated with autosomal recessive cornea plana.
@en
P2093
Amr Al-Saif
Marios Kambouris
P304
P356
10.1080/13816810490514397
P577
2004-06-01T00:00:00Z