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Novel mutations and polymorphisms in the Fanconi anemia group C gene
scientific article
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instance of
scholarly article
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title
Novel mutations and polymorphisms in the Fanconi anemia group C gene
(English)
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main subject
Fanconi anemia
1 reference
based on heuristic
inferred from title
author
Christopher G. Mathew
series ordinal
25
object named as
C G Mathew
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Thomy de Ravel
1 reference
stated in
ORCID Public Data File 2021
Juan Llerena Jr.
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stated in
ORCID Public Data File 2021
author name string
R A Gibson
series ordinal
1
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N V Morgan
series ordinal
2
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L H Goldstein
series ordinal
3
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I C Pearson
series ordinal
4
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I P Kesterton
series ordinal
5
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N J Foot
series ordinal
6
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S Jansen
series ordinal
7
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C Havenga
series ordinal
8
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T Pearson
series ordinal
9
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T J de Ravel
series ordinal
10
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R J Cohn
series ordinal
11
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I M Marques
series ordinal
12
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I Dokal
series ordinal
13
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I Roberts
series ordinal
14
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J Marsh
series ordinal
15
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S Ball
series ordinal
16
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R D Milner
series ordinal
17
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J C Llerena
series ordinal
18
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E Samochatova
series ordinal
19
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S P Mohan
series ordinal
20
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P Vasudevan
series ordinal
21
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F Birjandi
series ordinal
22
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A Hajianpour
series ordinal
23
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M Murer-Orlando
series ordinal
24
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language of work or name
English
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publication date
1996
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published in
Human Mutation
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volume
8
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issue
2
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page(s)
140-8
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cites work
Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
A nonsense mutation and exon skipping in the Fanconi anaemia group C gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
Modification of enzymatically amplified DNA for the detection of point mutations.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
Nomenclature of human DNA repair genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
Direct detection of point mutations by mismatch analysis: application to haemophilia B.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
A YAC contig spanning the nevoid basal cell carcinoma syndrome, Fanconi anaemia group C, and xeroderma pigmentosum group A loci on chromosome 9q.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
Fanconi anemia: another disease of unusually high prevalence in the Afrikaans population of South Africa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
Cloning of cDNAs for Fanconi's anaemia by functional complementation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
Cloning and analysis of the murine Fanconi anemia group C cDNA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
Direct diagnosis of carriers of point mutations in Duchenne muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
Complementation testing and genetic classification of Fanconi's anaemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1098-1004(1996)8:2<140::AID-HUMU6>3.0.CO;2-F
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PubMed ID
8844212
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