A novel locus for Leber congenital amaurosis on chromosome 14q24.
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Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosisA novel locus for Leber congenital amaurosis maps to chromosome 6qDelineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.Homozygosity mapping of the Achromatopsia locus in the PingelapeseA novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosisVisual improvement in Leber congenital amaurosis and the CRX genotypeAutosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX geneThe genetics of keratoconus.Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.Review and update on the molecular basis of Leber congenital amaurosisRDH12 retinopathy: novel mutations and phenotypic description.Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.Numb regulates the polarized delivery of cyclic nucleotide-gated ion channels in rod photoreceptor ciliaLeber congenital amaurosis: disease, genetics and therapy.Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.Mutation survey of known LCA genes and loci in the Saudi Arabian populationSPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosaIdentification of differentially regulated proteins in a patient with Leber's Congenital Amaurosis--a proteomic study.Screening for CRX gene mutations in Chinese patients with Leber congenital amaurosis and mutational phenotype.Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA.Family-based association tests for quantitative traits using pooled DNAOptimal selection strategies for QTL mapping using pooled DNA samples
P2860
Q24533664-949A8212-BC82-48B0-A30D-A49309CE999DQ24534329-D298BF46-AB23-49E0-A84D-2966F3FFEDBFQ24534394-D271B7D3-982C-4000-853B-56A32F0C4E3CQ24540079-8290D2CE-74A8-4789-93D8-3CE966C36D20Q28207498-EC9026EB-1753-462C-9C28-E11EC8881C19Q28209493-1EF004FC-DF4A-46D9-98A5-F21966B2B387Q28363963-D3735D3D-5518-4657-B570-477007BA0E72Q33956722-72177BF8-4C67-4966-A507-1A188D6F8A90Q34334012-74AB49A6-2844-4CE6-934E-7F176D4B83E3Q35050757-33F30526-4B70-4120-B0A0-111ACFE1767AQ35531727-DC255FC6-04B2-488C-A901-2B9099EE5479Q35590868-B8F9E86B-2941-4765-8A6A-C9314FB979F3Q35591269-AAABD5A0-5572-4BD5-962F-F9D020A86AC4Q36080257-7C1E878E-5546-4431-948C-C20BC206CB66Q37063535-5F306F5D-CAEE-4C6C-B99D-171682DA41BEQ37156105-7802A25C-9361-4162-A4C8-A099DD4A2E34Q37226498-E281D60A-7F8C-4BDB-BA6C-A0E8730B1B03Q38910961-5C5C7769-BE23-44B8-A4B2-DA3B539E87E0Q41824151-5B18AB8C-D317-438A-A859-235B9484D9B9Q43671138-348354D7-42EC-4D3E-8D9A-5331E895E534Q44432234-25EE3B06-7D3C-445F-B6A0-6D2B0EAEB82EQ46636370-F9164457-D05A-4AF2-A145-1A3371A63AEAQ57077220-805EF994-5148-4598-87FF-DD960E58D82FQ57234027-671167D8-F1D0-46D1-947F-5131FDB83CEA
P2860
A novel locus for Leber congenital amaurosis on chromosome 14q24.
description
1998 nî lūn-bûn
@nan
1998 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
A novel locus for Leber congenital amaurosis on chromosome 14q24.
@ast
A novel locus for Leber congenital amaurosis on chromosome 14q24.
@en
A novel locus for Leber congenital amaurosis on chromosome 14q24.
@nl
type
label
A novel locus for Leber congenital amaurosis on chromosome 14q24.
@ast
A novel locus for Leber congenital amaurosis on chromosome 14q24.
@en
A novel locus for Leber congenital amaurosis on chromosome 14q24.
@nl
prefLabel
A novel locus for Leber congenital amaurosis on chromosome 14q24.
@ast
A novel locus for Leber congenital amaurosis on chromosome 14q24.
@en
A novel locus for Leber congenital amaurosis on chromosome 14q24.
@nl
P2093
P356
P1433
P1476
A novel locus for Leber congenital amaurosis on chromosome 14q24.
@en
P2093
Al-Rajhi A
Anderson KL
Stockton DW
P2888
P304
P356
10.1007/S004390050825
P577
1998-09-01T00:00:00Z
P6179
1015913630