Novel mutations and polymorphisms in the Fanconi anemia group C gene (Q28292421)

25

object named as

C G Mathew

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Thomy de Ravel

1 reference

ORCID Public Data File 2021

Juan Llerena Jr.

1 reference

ORCID Public Data File 2021

author name string

R A Gibson

1

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N V Morgan

2

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L H Goldstein

3

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I C Pearson

4

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I P Kesterton

5

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N J Foot

6

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S Jansen

7

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C Havenga

8

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T Pearson

9

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T J de Ravel

10

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R J Cohn

11

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I M Marques

12

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I Dokal

13

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I Roberts

14

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J Marsh

15

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S Ball

16

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R D Milner

17

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J C Llerena

18

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E Samochatova

19

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S P Mohan

20

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P Vasudevan

21

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F Birjandi

22

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A Hajianpour

23

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M Murer-Orlando

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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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page(s)

140-8

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issue

2

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cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

A nonsense mutation and exon skipping in the Fanconi anaemia group C gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

Modification of enzymatically amplified DNA for the detection of point mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

Nomenclature of human DNA repair genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

Direct detection of point mutations by mismatch analysis: application to haemophilia B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

A YAC contig spanning the nevoid basal cell carcinoma syndrome, Fanconi anaemia group C, and xeroderma pigmentosum group A loci on chromosome 9q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

Fanconi anemia: another disease of unusually high prevalence in the Afrikaans population of South Africa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

Cloning of cDNAs for Fanconi's anaemia by functional complementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

Cloning and analysis of the murine Fanconi anemia group C cDNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

Direct diagnosis of carriers of point mutations in Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F

Complementation testing and genetic classification of Fanconi's anaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281996%298%3A2%3C140%3A%3AAID-HUMU6%3E3.0.CO%3B2-F