A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male.
about
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplificationGene for the alpha-subunit of the human interleukin-3 receptor (IL3RA) localized to the X-Y pseudoautosomal regionTwo progenitor cells for human oogonia inferred from pedigree data and the X-inactivation imprinting model of the fragile-X syndromeGerminal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutationsAnalysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene.Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 lociEstimate of germinal mosaicism in Duchenne muscular dystrophy.Molecular mechanism of retinoblastoma gene inactivation in retinoblastoma cell line Y79The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.Improved diagnosis of Duchenne/Becker muscular dystrophyProteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on BrainCharacterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand diseaseSomatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers.Germinal mosaicism and risk calculation in X-linked diseases.Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.Molecular analysis of hemophilia A mutations in the Finnish populationGerm-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).The use of field-inversion gel electrophoresis for deletion detection in Duchenne muscular dystrophy.Maternal duplication associated with gene deletion in sporadic hemophilia.Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis.Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis.Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutDystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrierEvidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy geneMolecular analysis of two mouse dilute locus deletion mutations: spontaneous dilute lethal20J and radiation-induced dilute prenatal lethal Aa2 alleles.Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy.Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling.Genetic analysis of three pedigrees of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair.Sex-dependent rearrangements resulting in CMT1A and HNPP.Mutation rate: a simple concept has become complex.Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination eventsUncovering the complex mysteries of mosaicism
P2860
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P2860
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male.
description
1987 nî lūn-bûn
@nan
1987年の論文
@ja
1987年学术文章
@wuu
1987年学术文章
@zh
1987年学术文章
@zh-cn
1987年学术文章
@zh-hans
1987年学术文章
@zh-my
1987年学术文章
@zh-sg
1987年學術文章
@yue
1987年學術文章
@zh-hant
name
A partial deletion of the musc ...... d twice by an unaffected male.
@en
A partial deletion of the musc ...... d twice by an unaffected male.
@nl
type
label
A partial deletion of the musc ...... d twice by an unaffected male.
@en
A partial deletion of the musc ...... d twice by an unaffected male.
@nl
prefLabel
A partial deletion of the musc ...... d twice by an unaffected male.
@en
A partial deletion of the musc ...... d twice by an unaffected male.
@nl
P356
P1433
P1476
A partial deletion of the musc ...... d twice by an unaffected male.
@en
P2093
P2888
P304
P356
10.1038/329556A0
P407
P577
1987-10-01T00:00:00Z
P6179
1004669405