about
Heterozygous mutations of OTX2 cause severe ocular malformationsSomatic mosaicism in the human genomeX-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidneyTheoretical considerations on germline mosaicism in Duchenne muscular dystrophy.Recurrence risk for germinal mosaics revisited.A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK.Clustered microsatellite mutations in the pipefish Syngnathus typhle.Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.Recurrence risk of a new dominant mutation in children of unaffected parentsIncrease of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?Genetic linkage analysis in the presence of germline mosaicismGonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.Archetypal and new families with Alexander disease and novel mutations in GFAP.Racial distribution of Duchenne muscular dystrophy in the West Midlands region of Britain.Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1)
P2860
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P2860
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
1989年论文
@zh
1989年论文
@zh-cn
name
Familiarity, recessivity and germline mosaicism.
@en
type
label
Familiarity, recessivity and germline mosaicism.
@en
prefLabel
Familiarity, recessivity and germline mosaicism.
@en
P2860
P1476
Familiarity, recessivity and germline mosaicism.
@en
P2093
Edwards JH
P2860
P356
10.1111/J.1469-1809.1989.TB01120.X
P407
P577
1989-01-01T00:00:00Z