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Kelsell D, Dunlop J, Stevens H, Lench N, et al. (1997) Connexin 26 mutations in
hereditary non-syndromic sensorineural deafness. Nature 387:80-83.
Kleppel M, Kashtan C, Butowski R, Fish A, Michael A (1987) Alport familial nephri-
tis: Absence of 28 kilodalton non-collagenous monomers of type IV collagen in
glomerular basement membrane. J Clin Inv 80:263-266.
Kortenkamp A, Jone C, Baker J (1997) Genotypic selection of mutated DNA
sequences using mismatch cleavage analysis, a possible basis for novel mutation
assays. Mutagenesis 12:335-338.
Krizman D, Hoffman T, DeSilva U, Green E, et al. (1995) Identification of 3ยข-
terminal from yeast artificial chromosomes. PCR Methods App 4:322-326.
Kruglyak L (1997) The use of a genetic map of biallelic markers in linkage studies.
Nat Genet 17:21-24.
Kruglyak L, Daly M, Lander E (1995) Rapid multipoint linkage analysis of reces-
sive traits in nuclear families, including homozygosity mapping. Am J Hum Genet
56:519-527.
Kumar S, Deffenbacher K, Cremers C, Camp GV, Kimberling W (1998) Branchio-
oto-renal syndrome: Identification of novel mutations, molecular characteriza-
tion, mutation distribution, and prospects for genetic testing. Genetic Testing
1:243-251.
Lander E, Botstein D (1987) Homozygosity mapping: A way to map human reces-
sive traits with the DNA of inbred children. Science 236:1567-1570.
Leon P, Bonilla J, Sanchez J, Vanegas R, et al. (1981) Low frequency hereditary deaf-
ness in man with childhood onset. Am J Hum Genet 33:209-214.
Leon P, Raventos H, Lynch E, Morrow J, King M-C (1992) The gene for an inher-
ited form of deafness maps to chromosome 5q31. Proc Natl Acad Sci, USA
89:5181-5184.
Liang Y, Wang A, Probst F, Arhya I, et al. (1998) Genetic mapping refines DFNB3
to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the
mouse model shaker-2 . Am J Hum Genet 62:904-915.
Mueller R, Bishop D (1993) Complex consanguinity and homozygosity mapping.
J Med Genet 30:798-799.
Murakami T, Lupski J (1996) A 1.5-Mb cosmid contig of the CMT1A duplica-
tion/HNPP deletion critical region in 17p11.2-p12. Genomics 34:128-133.
Murakami T, Sun Z, Lee C, Lupski J (1997) Isolation of novel genes from the
CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. Genomics
39:99-103.
Myers R, Fisher S, Lerman L, Maniatis T (1985) Nearly all single base substitutions
in DNA fragments joined to a GC-clamp can be detected by denaturing gradient
gel electrophoresis. Nuc Acid Res 13:3131-3145.
Nagamine C, Chan K, Lau Y (1989) A PCR artefact: Generation of heteroduplexes.
Am J Hum Genet 45:337-339.
Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of poly-
morphisms of human DNA by gel electrophoresis as single-stranded conforma-
tion polymorphisms. Proc Natl Acad Sci, USA 86:2766-2769.
Probst F, Fridell R, Raphael Y, Saunders T, et al. (1998) Correction of deafness in
shaker-2
mice by an unconventional myosin BAC transgene.
Science 280:
1444-1447.
Roberts E, Deeble VJ, Woods CG, Taylor GR (1997) Potassium permanganate and
tetraethylammonium chloride are a safe and effective substitute for osmium
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