Easy calculations of lod scores and genetic risks on small computers
about
Mega2: validated data-reformatting for linkage and association analysesSlowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosaGamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataractsAutosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous familyMutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in miceA gain-of-function mutation in TRPA1 causes familial episodic pain syndromeA gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26A variant in the HS1-BP3 gene is associated with familial essential tremorHomozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family.Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophyA founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cMChromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucomaGenetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23Paget disease of bone: mapping of two loci at 5q35-qter and 5q31.Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing proteinLocalization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotypeAssignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region.Renpenning syndrome maps to Xp11.PedCheck: a program for identification of genotype incompatibilities in linkage analysisLocalization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37Hereditary isolated renal magnesium loss maps to chromosome 11q23.Mapping of primary congenital lymphedema to the 5q35.3 region
P2860
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P2860
Easy calculations of lod scores and genetic risks on small computers
description
1984 nî lūn-bûn
@nan
1984 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1984 թվականի մարտին հրատարակված գիտական հոդված
@hy
1984年の論文
@ja
1984年論文
@yue
1984年論文
@zh-hant
1984年論文
@zh-hk
1984年論文
@zh-mo
1984年論文
@zh-tw
1984年论文
@wuu
name
Easy calculations of lod scores and genetic risks on small computers
@ast
Easy calculations of lod scores and genetic risks on small computers
@en
type
label
Easy calculations of lod scores and genetic risks on small computers
@ast
Easy calculations of lod scores and genetic risks on small computers
@en
prefLabel
Easy calculations of lod scores and genetic risks on small computers
@ast
Easy calculations of lod scores and genetic risks on small computers
@en
P2860
P3181
P1476
Easy calculations of lod scores and genetic risks on small computers
@en
P2093
Lathrop GM
P2860
P304
P3181
P407
P577
1984-03-01T00:00:00Z