Found: 19
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Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene.
- Published in:
- Human Mutation, 1996, v. 7, n. 3, p. 187, doi. 10.1002/(SICI)1098-1004(1996)7:3<187::AID-HUMU1>3.0.CO;2-8
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- Article
Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging.
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- Human Mutation, 1996, v. 7, n. 3, p. 193, doi. 10.1002/(SICI)1098-1004(1996)7:3<193::AID-HUMU2>3.0.CO;2-C
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- Article
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.
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- Human Mutation, 1996, v. 7, n. 3, p. 198, doi. 10.1002/(SICI)1098-1004(1996)7:3<198::AID-HUMU3>3.0.CO;2-7
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- Article
Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses.
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- Human Mutation, 1996, v. 7, n. 3, p. 202, doi. 10.1002/(SICI)1098-1004(1996)7:3<202::AID-HUMU4>3.0.CO;2-C
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- Article
Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations.
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- Human Mutation, 1996, v. 7, n. 3, p. 214, doi. 10.1002/(SICI)1098-1004(1996)7:3<214::AID-HUMU5>3.0.CO;2-A
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- Article
Splice site mutation causing deletion of exon 21 sequences from the proα2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta.
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- Human Mutation, 1996, v. 7, n. 3, p. 219, doi. 10.1002/(SICI)1098-1004(1996)7:3<219::AID-HUMU6>3.0.CO;2-5
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- Article
PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.
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- Human Mutation, 1996, v. 7, n. 3, p. 228, doi. 10.1002/(SICI)1098-1004(1996)7:3<228::AID-HUMU7>3.0.CO;2-6
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- Article
Fumarylacetoacetase mutations in tyrosinaemia type I.
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- Human Mutation, 1996, v. 7, n. 3, p. 239, doi. 10.1002/(SICI)1098-1004(1996)7:3<239::AID-HUMU8>3.0.CO;2-5
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- Article
Cystic fibrosis mutation detection by hybridization to light-generated DNA probe arrays.
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- Human Mutation, 1996, v. 7, n. 3, p. 244, doi. 10.1002/(SICI)1098-1004(1996)7:3<244::AID-HUMU9>3.0.CO;2-A
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- Article
Sensitive and fast mutation detection by solid phase chemical cleavage.
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- Human Mutation, 1996, v. 7, n. 3, p. 256, doi. 10.1002/(SICI)1098-1004(1996)7:3<256::AID-HUMU10>3.0.CO;2-1
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- Article
Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia c gene, FAC.
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- Human Mutation, 1996, v. 7, n. 3, p. 264, doi. 10.1002/(SICI)1098-1004(1996)7:3<264::AID-HUMU11>3.0.CO;2-0
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- Article
A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient.
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- Human Mutation, 1996, v. 7, n. 3, p. 266, doi. 10.1002/(SICI)1098-1004(1996)7:3<266::AID-HUMU12>3.0.CO;2-0
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- Article
Two point mutations (313 + 1G→A and 313 + 1G→T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia.
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- Human Mutation, 1996, v. 7, n. 3, p. 269, doi. 10.1002/(SICI)1098-1004(1996)7:3<269::AID-HUMU13>3.0.CO;2-0
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- Article
Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the β-glucocerebrosidase gene in Gaucher's disease patients.
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- Human Mutation, 1996, v. 7, n. 3, p. 272, doi. 10.1002/(SICI)1098-1004(1996)7:3<272::AID-HUMU14>3.0.CO;2-#
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Somatic mutations of a human mismatch repair gene, hMLH1, in tumors from patients with multiple primary cancers.
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- Human Mutation, 1996, v. 7, n. 3, p. 275, doi. 10.1002/(SICI)1098-1004(1996)7:3<275::AID-HUMU15>3.0.CO;2-#
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- Article
A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.
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- Human Mutation, 1996, v. 7, n. 3, p. 279, doi. 10.1002/(SICI)1098-1004(1996)7:3<279::AID-HUMU16>3.0.CO;2-#
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- Article
Sequence variation in intron of prion protein gene, crucial for complete diagnostic strategies.
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- Human Mutation, 1996, v. 7, n. 3, p. 280, doi. 10.1002/(SICI)1098-1004(1996)7:3<280::AID-HUMU17>3.0.CO;2-Z
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Announcement.
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- Human Mutation, 1996, v. 7, n. 3, p. 282, doi. 10.1002/humu.1380070302
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Masthead.
- Published in:
- Human Mutation, 1996, v. 7, n. 3, p. fmi, doi. 10.1002/humu.1380070301
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- Article