Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 51, doi. 10.1002/(SICI)1098-1004(1996)8:1<51::AID-HUMU7>3.0.CO;2-S
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- Article
Works matching IS 10597794 AND DT 1996 AND VI 8 AND IP 1
Results: 21
1
2
Mutations and Polymorphisms in the familial early-onset breast cancer ( BRCA1) gene.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 8, doi. 10.1002/humu.1380080102
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- Article
3
Recurrence of the PROC gene mutation R178Q: Independent origins in Spanish protein C deficiency patients.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 71, doi. 10.1002/(SICI)1098-1004(1996)8:1<71::AID-HUMU10>3.0.CO;2-O
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- Article
4
Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant charcot-marie-tooth neuropathy.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 83, doi. 10.1002/(SICI)1098-1004(1996)8:1<83::AID-HUMU14>3.0.CO;2-N
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- Article
5
DGGE analysis as supplement to SSCP analysis of the phenylalanine hydroxylase gene: Detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 19, doi. 10.1002/(SICI)1098-1004(1996)8:1<19::AID-HUMU2>3.0.CO;2-K
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- Article
6
IDS gene-pseudogene exchange responsible for an intragenic deletion in a hunter patient.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 44, doi. 10.1002/(SICI)1098-1004(1996)8:1<44::AID-HUMU6>3.0.CO;2-P
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- Article
7
Masthead.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. fmi, doi. 10.1002/humu.1380080101
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- Article
8
Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 79, doi. 10.1002/(SICI)1098-1004(1996)8:1<79::AID-HUMU13>3.0.CO;2-O
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- Article
9
New mutation in the 3′-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 93, doi. 10.1002/(SICI)1098-1004(1996)8:1<93::AID-HUMU17>3.0.CO;2-M
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- Article
10
Repeat offenders: Simple repeat sequences and complex genetic problems.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 1, doi. 10.1002/(SICI)1098-1004(1996)8:1<1::AID-HUMU1>3.0.CO;2-G
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11
A sensitive mutation screening strategy for Fabry disease: Detection of nine mutations in the α-galactosidase A gene.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 38, doi. 10.1002/(SICI)1098-1004(1996)8:1<38::AID-HUMU5>3.0.CO;2-L
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- Article
12
Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 64, doi. 10.1002/(SICI)1098-1004(1996)8:1<64::AID-HUMU9>3.0.CO;2-P
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13
Announcement.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 96, doi. 10.1002/humu.1380080104
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- Article
14
A 14-bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 77, doi. 10.1002/(SICI)1098-1004(1996)8:1<77::AID-HUMU12>3.0.CO;2-O
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- Article
15
Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the β-globin gene.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 89, doi. 10.1002/(SICI)1098-1004(1996)8:1<89::AID-HUMU16>3.0.CO;2-N
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- Article
16
Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 32, doi. 10.1002/(SICI)1098-1004(1996)8:1<32::AID-HUMU4>3.0.CO;2-R
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17
Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 57, doi. 10.1002/(SICI)1098-1004(1996)8:1<57::AID-HUMU8>3.0.CO;2-M
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18
Erratum.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 95, doi. 10.1002/humu.1380080103
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- Article
19
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 74, doi. 10.1002/(SICI)1098-1004(1996)8:1<74::AID-HUMU11>3.0.CO;2-O
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- Article
20
Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 85, doi. 10.1002/(SICI)1098-1004(1996)8:1<85::AID-HUMU15>3.0.CO;2-N
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21
Single base-pair substitutions in pathology and evolution: Two sides to the same coin.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 23, doi. 10.1002/(SICI)1098-1004(1996)8:1<23::AID-HUMU3>3.0.CO;2-Q
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- Article