Found: 19
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Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY).
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- Human Mutation, 1998, v. 12, n. 2, p. 136, doi. 10.1002/(SICI)1098-1004(1998)12:2<136::AID-HUMU13>3.0.CO;2-V
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Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA.
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- Human Mutation, 1998, v. 12, n. 2, p. 95, doi. 10.1002/(SICI)1098-1004(1998)12:2<95::AID-HUMU4>3.0.CO;2-E
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Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae.
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- Human Mutation, 1998, v. 12, n. 2, p. 138, doi. 10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU17>3.0.CO;2-D
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- Article
Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family.
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- Human Mutation, 1998, v. 12, n. 2, p. 135, doi. 10.1002/(SICI)1098-1004(1998)12:2<135::AID-HUMU9>3.0.CO;2-K
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Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.
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- Human Mutation, 1998, v. 12, n. 2, p. 103, doi. 10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6
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- Article
Niemann Pick disease type A in Israeli Arabs: 677delT, a common novel single mutation.
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- Human Mutation, 1998, v. 12, n. 2, p. 136, doi. 10.1002/(SICI)1098-1004(1998)12:2<136::AID-HUMU12>3.0.CO;2-Y
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Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families.
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- Human Mutation, 1998, v. 12, n. 2, p. 75, doi. 10.1002/(SICI)1098-1004(1998)12:2<75::AID-HUMU1>3.0.CO;2-T
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- Article
A nonsense mutation (R242X) in the branched-chain α-keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease.
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- Human Mutation, 1998, v. 12, n. 2, p. 136, doi. 10.1002/(SICI)1098-1004(1998)12:2<136::AID-HUMU11>3.0.CO;2-0
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- Article
C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus.
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- Human Mutation, 1998, v. 12, n. 2, p. 137, doi. 10.1002/(SICI)1098-1004(1998)12:2<137::AID-HUMU16>3.0.CO;2-J
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- Article
A new set of primers for mutation analysis of the human PAX6 gene.
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- Human Mutation, 1998, v. 12, n. 2, p. 128, doi. 10.1002/(SICI)1098-1004(1998)12:2<128::AID-HUMU8>3.0.CO;2-N
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- Article
A novel homozygous nonsense mutation E135* in the type II 3β-hydroxysteroid dehydrogenase gene in a girl with salt-losing congenital adrenal hyperplasia.
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- Human Mutation, 1998, v. 12, n. 2, p. 139, doi. 10.1002/(SICI)1098-1004(1998)12:2<139::AID-HUMU19>3.0.CO;2-4
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- Article
Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia.
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- Human Mutation, 1998, v. 12, n. 2, p. 137, doi. 10.1002/(SICI)1098-1004(1998)12:2<137::AID-HUMU15>3.0.CO;2-M
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Exons - Introns = Lexons: In-frame concatenation of exons by PCR.
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- Human Mutation, 1998, v. 12, n. 2, p. 122, doi. 10.1002/(SICI)1098-1004(1998)12:2<122::AID-HUMU7>3.0.CO;2-W
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Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
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- Human Mutation, 1998, v. 12, n. 2, p. 89, doi. 10.1002/(SICI)1098-1004(1998)12:2<89::AID-HUMU3>3.0.CO;2-G
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Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy.
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- Human Mutation, 1998, v. 12, n. 2, p. 135, doi. 10.1002/(SICI)1098-1004(1998)12:2<135::AID-HUMU10>3.0.CO;2-6
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A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome (MfS).
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- Human Mutation, 1998, v. 12, n. 2, p. 137, doi. 10.1002/(SICI)1098-1004(1998)12:2<137::AID-HUMU14>3.0.CO;2-P
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Identification of novel PAX6 mutations in two families with bilateral aniridia.
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- Human Mutation, 1998, v. 12, n. 2, p. 138, doi. 10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU18>3.0.CO;2-A
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Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: Two pathogenic mutations, V133E and C456F, in Japanese siblings.
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- Human Mutation, 1998, v. 12, n. 2, p. 83, doi. 10.1002/(SICI)1098-1004(1998)12:2<83::AID-HUMU2>3.0.CO;2-P
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Arginine 302 mutations in the pyruvate dehydrogenase E1α subunit gene: Identification of further patients and in vitro demonstration of pathogenicity.
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- Human Mutation, 1998, v. 12, n. 2, p. 114, doi. 10.1002/(SICI)1098-1004(1998)12:2<114::AID-HUMU6>3.0.CO;2-#
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