High frequency of de novo deletions in Mexican Duchenne and Becker muscular dystrophy patients. Implications for genetic counseling

scientific article published on 01 May 1999

High frequency of de novo deletions in Mexican Duchenne and Becker muscular dystrophy patients. Implications for genetic counseling is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1034/J.1399-0004.1999.550514.X
P698PubMed publication ID10422811

P2093author name stringR Lee
G Gutiérrez
M Macías
V Del Castillo
L Orozco
M T Villarreal
I Maulen
M A Alcántara
Y Saldaña
P2860cites workComplete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individualsQ30050310
Molecular-genetic study of Duchenne and Becker muscular dystrophies: deletion analyses of 45 Japanese patients and segregation analyses in their families with RFLPs based on the data from normal Japanese femalesQ30908658
Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin geneQ33593859
Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplicationsQ33594787
Deletions in the 5' region of dystrophin and resulting phenotypesQ33596173
Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probesQ33597671
On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesisQ33673489
Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophyQ35862632
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophyQ38738023
Racial distribution of Duchenne muscular dystrophy in the West Midlands region of BritainQ41642049
Detection of 98% of DMD/BMD gene deletions by polymerase chain reactionQ41822557
Detection of carriers of deletions in the dystrophin gene in Bulgarian DMD-BMD familiesQ43930429
Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII geneQ45886034
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.Q52862565
The rate of spontaneous mutation of a human geneQ56094417
Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy geneQ57436724
Frequency of Duchenne muscular dystrophy carriersQ66694732
Molecular study of duchenne and Becker muscular dystrophies in JapaneseQ67836106
Intragenic deletions in 164 boys with Duchenne muscular dystrophy (DMD) studied with dystrophin cDNAQ68533286
Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophiesQ69968724
Does unequal crossing over contribute to the mutation rate in Duchenne muscular dystrophy?Q70468513
A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal femalesQ71339095
Sporadic occurrence of Duchenne muscular dystrophy: evidence for new mutationQ71472252
Complex segregation analysis and computer-assisted genetic risk assessment for Duchenne muscular dystrophyQ71699523
Dystrophin gene analysis and prenatal diagnosis of Duchenne muscular dystrophy in RussiaQ72227521
High frequency of new mutations in North Indian Duchenne/Becker muscular dystrophy patientsQ73010199
Are there ethnic differences in deletions in the dystrophin gene?Q73062766
P433issue5
P921main subjectBecker muscular dystrophyQ2484592
P304page(s)376-380
P577publication date1999-05-01
P1433published inClinical GeneticsQ5133760
P1476titleHigh frequency of de novo deletions in Mexican Duchenne and Becker muscular dystrophy patients. Implications for genetic counseling
P478volume55

Reverse relations

cites work (P2860)
Q73184222Analysis of dinucleotide repeat loci of dystrophin gene for carrier detection, germline mosaicism and de novo mutations in Duchenne muscular dystrophy
Q77122159Carrier detection and prenatal molecular diagnosis in a Duchenne muscular dystrophy family without any affected relative available
Q37073219Carrier detection in Duchenne muscular dystrophy using molecular methods
Q89421257Comprehensive genetic characteristics of dystrophinopathies in China
Q51604051Deletional mutations of dystrophin gene and carrier detection in eastern India.
Q88456410Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene
Q59327143HLA Polymorphism Affects Risk of de novo Mutation of dystrophin Gene and Clinical Severity of Duchenne Muscular Dystrophy in a Southern Chinese Population
Q46290629Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.
Q37340016Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy

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