(Q46793620)

25 December 2017

title

Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide (English)

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25 December 2017

author name string

Carolyn H Buzin

1

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25 December 2017

Jinong Feng

2

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25 December 2017

Jin Yan

3

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25 December 2017

William Scaringe

4

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25 December 2017

Qiang Liu

5

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25 December 2017

Johan den Dunnen

6

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25 December 2017

Jerry R Mendell

7

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25 December 2017

Steve S Sommer

8

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25 December 2017

publication date

1 February 2005

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25 December 2017

published in

Human Mutation

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25 December 2017

volume

25

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25 December 2017

issue

2

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25 December 2017

page(s)

177-188

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25 December 2017

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

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Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

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Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

21 January 2018

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Novel hotspot detector software reveals a non-CpG hotspot of germline mutation in the factor IX gene (F9) in Latin Americans

21 January 2018

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Rapid direct sequence analysis of the dystrophin gene

21 January 2018

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The molecular basis of haemophilia A and B.

21 January 2018

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Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.

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The X chromosome and the rate of deleterious mutations in humans

21 January 2018

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Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line

21 January 2018

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Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians.

21 January 2018

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Spontaneous microdeletions and microinsertions in a transgenic mouse mutation detection system: analysis of age, tissue, and sequence specificity

21 January 2018

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Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

21 January 2018

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Splicing regulation at the second catalytic step by Sex-lethal involves 3' splice site recognition by SPF45

21 January 2018

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Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations

21 January 2018

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Exclusive paternal origin of new mutations in Apert syndrome

21 January 2018

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Random number generators: good ones are hard to find

21 January 2018

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Introducing RefSeq and LocusLink: curated human genome resources at the NCBI.

21 January 2018

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Exon structure of the human dystrophin gene

21 January 2018

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Recent human germ-line mutation: inferences from patients with hemophilia B.

21 January 2018

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Germline mosaicism in a female who seemed to be a carrier by sequence analysis

21 January 2018

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The factor IX gene as a model for analysis of human germline mutations: an update

21 January 2018

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Human germline mutation in the factor IX gene

21 January 2018

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Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

21 January 2018

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Genetics of Duchenne muscular dystrophy

21 January 2018

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Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD).

21 January 2018

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DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

21 January 2018

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21 January 2018

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Scanning by DOVAM-S detects all unique sequence changes in blinded analyses: evidence that the scanning conditions are generic

21 January 2018

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7 January 2021

Detection of virtually all mutations-SSCP (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity

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7 January 2021

Diagnosis of Duchenne dystrophy by enhanced detection of small mutations

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7 January 2021

On the distributions of frequencies of mutation to genes determining harmful traits in man

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https://api.crossref.org/works/10.1002%2FHUMU.20132

7 January 2021

The conserved dinucleotide AG of the 3' splice site may be recognized twice during in vitro splicing of mammalian mRNA precursors

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https://api.crossref.org/works/10.1002%2FHUMU.20132

7 January 2021

Identifiers

DOI

10.1002/HUMU.20132

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25 December 2017

1 reference

25 December 2017