| scholarly article | Q13442814 |
| P356 | DOI | 10.1016/S0161-6420(03)00828-5 |
| P698 | PubMed publication ID | 14644728 |
| P2093 | author name string | Albert O Edwards | |
| Tatsuo Hirose | |||
| Robert Ritter | |||
| Cuong D Vu | |||
| Mike M Lee | |||
| P2860 | cites work | Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes | Q22010382 |
| Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity | Q22010841 | ||
| A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen | Q24314597 | ||
| Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene | Q28189993 | ||
| Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen | Q28264950 | ||
| Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome) | Q28287992 | ||
| COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes | Q35313924 | ||
| Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy) | Q37557996 | ||
| Vitreoretinal Degeneration as a Sign of Generalized Connective Tissue Diseases | Q39686689 | ||
| Hereditary vitreopathy | Q41416238 | ||
| The biochemical structure of mammalian vitreous | Q41416255 | ||
| Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling | Q43076060 | ||
| Marshall syndrome and a defect at the COL11A1 locus | Q43217981 | ||
| A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration | Q43867148 | ||
| Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family | Q44214604 | ||
| Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene | Q44268960 | ||
| A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis | Q48111757 | ||
| Wagner vitreoretinal degeneration. Follow-up of the original pedigree. | Q54739483 | ||
| Erosive Vitreoretinopathy | Q57785202 | ||
| Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1 | Q58020476 | ||
| Stickler syndrome type 2 and linkage to the COL11A1 gene | Q71244735 | ||
| A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred | Q71339787 | ||
| Masked confirmation of linkage between type 1 congenital vitreous anomaly and COL 2A1 in Stickler syndrome | Q71848664 | ||
| A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene | Q72449249 | ||
| Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability | Q73519736 | ||
| Localization of pN-type IIA procollagen on adult bovine vitreous collagen fibrils | Q73863341 | ||
| P433 | issue | 12 | |
| P921 | main subject | cataract | Q127724 |
| vitreous humour | Q326710 | ||
| snowflake | Q550147 | ||
| Fuchs' endothelial dystrophy | Q1464888 | ||
| eye disease | Q3041498 | ||
| retinal degeneration | Q3043268 | ||
| hereditary eye disease | Q54944284 | ||
| snowflake vitreoretinal degeneration | Q55345684 | ||
| P304 | page(s) | 2418-2426 | |
| P577 | publication date | 2003-12-01 | |
| P1433 | published in | Ophthalmology | Q7098109 |
| P1476 | title | Snowflake vitreoretinal degeneration: follow-up of the original family | |
| P478 | volume | 110 |
| Q41726746 | A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations |
| Q33296999 | Blindness caused by deficiency in AE3 chloride/bicarbonate exchanger |
| Q37097868 | Clinical features of the congenital vitreoretinopathies |
| Q33346235 | Density of common complex ocular traits in the aging eye: analysis of secondary traits in genome-wide association studies |
| Q104073487 | Evolution of the potassium channel gene Kcnj13 underlies colour pattern diversification in Danio fish |
| Q36125019 | Focus on Kir7.1: physiology and channelopathy |
| Q37039793 | Genetics of hereditary vitreoretinal degenerations. |
| Q36477647 | Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration |
| Q35103796 | Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis |
| Q34972098 | Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function |
| Q36754678 | The genetics of Fuchs' corneal dystrophy |
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