Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy

scientific article published on 01 February 1992

Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/BF01958954
P698PubMed publication ID1537352

P50authorMarion CremerQ57595777
P2093author name stringT Voit
A Jauch
V Mahler
E Neuen-Jacob
P2860cites workDirect carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locusQ68583876
Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophyQ69482372
Distribution of dystrophin, nebulin and Ricinus communis I (RCA-I)-binding glycoprotein in tissues of normal and mdx miceQ69490306
Improved diagnosis of Becker muscular dystrophy by dystrophin testingQ69527738
Dystrophin in skeletal muscle. II. Immunoreactivity in patients with Xp21 muscular dystrophyQ69566089
Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophyQ69896114
Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNAQ69919034
Detection of Duchenne muscular dystrophy carriers by dosage analysis using the DMD cDNA clone 8Q69939408
Dystrophin: the protein product of the Duchenne muscular dystrophy locusQ29618077
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individualsQ30050310
The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophyQ33673995
Rapid detection of human chromosome 21 aberrations by in situ hybridizationQ33687128
Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analysesQ34304388
Familial inheritance of a DXS164 deletion mutation from a heterozygous femaleQ35199244
Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophyQ35819174
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segmentQ36423793
Familiarity, recessivity and germline mosaicismQ38639759
Dystrophin abnormalities in Duchenne/Becker muscular dystrophyQ38768990
Duchenne muscular dystrophy: Pathogenetic aspects and genetic preventionQ40170529
High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.Q40451838
Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) geneQ40577449
Dystrophin and nebulin in the muscular dystrophiesQ41842553
Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophyQ41925866
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locusQ42658269
Somatic mosaicism at the Duchenne locusQ44782163
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected maleQ46641170
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophyQ48311793
Germline mosaicism and Duchenne muscular dystrophy mutationsQ57849329
Dystrophin analysis in duchenne and becker muscular dystrophy carriers: Correlation with intracellular calcium and albuminQ60178243
Germinal ?mosaicism? ? germline mutation or chimerism?Q67737771
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophyQ68137662
Germinal mosaicism in Duchenne muscular dystrophyQ68274848
P433issue2
P921main subjectBecker muscular dystrophyQ2484592
P304page(s)112-116
P577publication date1992-02-01
P1433published inEuropean Journal of PediatricsQ15755736
P1476titleSomatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy
P478volume151