Found: 26
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Direct sequencing of PCR products derived from cDNAs for the proα1 and proα2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.
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- Human Mutation, 1996, v. 7, n. 2, p. 89, doi. 10.1002/(SICI)1098-1004(1996)7:2<89::AID-HUMU1>3.0.CO;2-K
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Detection of RET mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresis.
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- Human Mutation, 1996, v. 7, n. 2, p. 100, doi. 10.1002/(SICI)1098-1004(1996)7:2<100::AID-HUMU2>3.0.CO;2-G
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Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection.
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- Human Mutation, 1996, v. 7, n. 2, p. 105, doi. 10.1002/(SICI)1098-1004(1996)7:2<105::AID-HUMU3>3.0.CO;2-B
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Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.
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- Human Mutation, 1996, v. 7, n. 2, p. 109, doi. 10.1002/(SICI)1098-1004(1996)7:2<109::AID-HUMU4>3.0.CO;2-7
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Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA.
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- Human Mutation, 1996, v. 7, n. 2, p. 114, doi. 10.1002/(SICI)1098-1004(1996)7:2<114::AID-HUMU5>3.0.CO;2-C
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Mucopolysaccharidosis IVA: Submicroscopic deletion of 16q24.3 and a novel R386C mutation of n-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
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- Human Mutation, 1996, v. 7, n. 2, p. 123, doi. 10.1002/(SICI)1098-1004(1996)7:2<123::AID-HUMU6>3.0.CO;2-D
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Mass allele detection (MAD) of rare 5-HT<sub>1A</sub> structural variants with allele-specific amplification and electrochemiluminescent detection.
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- Human Mutation, 1996, v. 7, n. 2, p. 135, doi. 10.1002/(SICI)1098-1004(1996)7:2<135::AID-HUMU7>3.0.CO;2-B
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Advantages of RT-PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: Detection of new mouse and human expressed polymorphisms.
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- Human Mutation, 1996, v. 7, n. 2, p. 144, doi. 10.1002/(SICI)1098-1004(1996)7:2<144::AID-HUMU8>3.0.CO;2-C
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Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked alport syndrome.
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- Human Mutation, 1996, v. 7, n. 2, p. 149, doi. 10.1002/(SICI)1098-1004(1996)7:2<149::AID-HUMU9>3.0.CO;2-7
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Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
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- Human Mutation, 1996, v. 7, n. 2, p. 151, doi. 10.1002/(SICI)1098-1004(1996)7:2<151::AID-HUMU10>3.0.CO;2-1
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A newly identified aldolase B splicing mutation (G→C, 5′ intron 5) in hereditary fructose intolerance from New Zealand.
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- Human Mutation, 1996, v. 7, n. 2, p. 155, doi. 10.1002/(SICI)1098-1004(1996)7:2<155::AID-HUMU11>3.0.CO;2-1
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Identification of a mutation in the mitochondrial tRNA<sup>Cys</sup> gene associated with mitochondrial encephalopathy.
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- Human Mutation, 1996, v. 7, n. 2, p. 158, doi. 10.1002/(SICI)1098-1004(1996)7:2<158::AID-HUMU12>3.0.CO;2-1
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A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.
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- Human Mutation, 1996, v. 7, n. 2, p. 164, doi. 10.1002/(SICI)1098-1004(1996)7:2<164::AID-HUMU13>3.0.CO;2-0
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Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease.
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- Human Mutation, 1996, v. 7, n. 2, p. 167, doi. 10.1002/(SICI)1098-1004(1996)7:2<167::AID-HUMU14>3.0.CO;2-0
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Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene.
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- Human Mutation, 1996, v. 7, n. 2, p. 172, doi. 10.1002/(SICI)1098-1004(1996)7:2<172::AID-HUMU15>3.0.CO;2-#
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Two novel (R(−11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds.
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- Human Mutation, 1996, v. 7, n. 2, p. 176, doi. 10.1002/(SICI)1098-1004(1996)7:2<176::AID-HUMU16>3.0.CO;2-#
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Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa.
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- Human Mutation, 1996, v. 7, n. 2, p. 180, doi. 10.1002/(SICI)1098-1004(1996)7:2<180::AID-HUMU17>3.0.CO;2-Z
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A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa.
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- Human Mutation, 1996, v. 7, n. 2, p. 180, doi. 10.1002/humu.1380070202
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A novel splice-site mutation in the CD40L gene in a patient with X-linked hyper-IgM syndrome.
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- Human Mutation, 1996, v. 7, n. 2, p. 181, doi. 10.1002/(SICI)1098-1004(1996)7:2<181::AID-HUMU18>3.0.CO;2-Z
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A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients.
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- Human Mutation, 1996, v. 7, n. 2, p. 182, doi. 10.1002/(SICI)1098-1004(1996)7:2<182::AID-HUMU19>3.0.CO;2-Z
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A 66-Basepair insertion in Exon 6 of the α- L-fucosidase gene of a fucosidosis patient;.
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- Human Mutation, 1996, v. 7, n. 2, p. 183, doi. 10.1002/humu.1380070203
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A new frameshift mutation 460delG in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
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- Human Mutation, 1996, v. 7, n. 2, p. 183, doi. 10.1002/(SICI)1098-1004(1996)7:2<183::AID-HUMU20>3.0.CO;2-Y
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Two New Nonsense mutations (Q80X; Q389X) in patients with severe hunter syndrome ( mucopolysaccharidosis type II).
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- Human Mutation, 1996, v. 7, n. 2, p. 184, doi. 10.1002/humu.1380070204
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Novel initiation codon mutation Met1Thr identified in a patient with partial hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency: HPRT Heidelberg.
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- Human Mutation, 1996, v. 7, n. 2, p. 184, doi. 10.1002/(SICI)1098-1004(1996)7:2<184::AID-HUMU21>3.0.CO;2-Y
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Identification of two sporadically derived mutations in the Von Hippel-Lindau gene.
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- Human Mutation, 1996, v. 7, n. 2, p. 185, doi. 10.1002/(SICI)1098-1004(1996)7:2<185::AID-HUMU22>3.0.CO;2-Y
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Masthead.
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- Human Mutation, 1996, v. 7, n. 2, p. fmi, doi. 10.1002/humu.1380070201
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- Article