Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele.
about
The human thyroglobulin gene is over 300 kb long and contains introns of up to 64 kbMolecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria familiesNovel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patientPrevalence and molecular characterization of Glucose-6-Phosphate dehydrogenase deficient variants among the Kurdish population of Northern Iraq.Developmental and transformation-sensitive expression of the Sparc gene on mouse chromosome 11Structure of the human CALM1 calmodulin gene and identification of two CALM1-related pseudogenes CALM1P1 and CALM1P2.Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.Azoospermia and ring chromosome 9--a case report.Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.Pulsed-field electrophoresis screening for immunoglobulin heavy-chain constant-region (IGHC) multigene deletions and duplications.Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.The X chromosome shows less genetic variation at restriction sites than the autosomes.Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.Genetic linkage of two intragenic restriction fragment length polymorphisms with von Willebrand's disease type IIA. Evidence for a defect in the von Willebrand factor geneTwo Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours.Structural organization of the bovine thyroglobulin gene and of its 5'-flanking region.Detection of Occult Acute Kidney Injury in Glucose-6-Phosphate Dehydrogenase Deficiency AnemiaGenes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes.Human chromosome 8.Restriction fragment length polymorphisms in the mushrooms Agaricus brunnescens and Agaricus bitorquisIdentification of polymorphisms by genomic denaturing gradient gel electrophoresis: application to the proximal region of human chromosome 21.Qualitative and quantitative defects of thyroglobulin resulting in congenital goiter. Absence of gross gene deletion of coding sequences in the TG gene structure.Merging autosomal dominance and recessivity.DIETFITS study (diet intervention examining the factors interacting with treatment success) - Study design and methods.The complete cDNA sequence and structural polymorphism of the polypeptide chain of porcine submaxillary mucin.
P2860
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P2860
Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele.
description
1984 nî lūn-bûn
@nan
1984年の論文
@ja
1984年論文
@yue
1984年論文
@zh-hant
1984年論文
@zh-hk
1984年論文
@zh-mo
1984年論文
@zh-tw
1984年论文
@wuu
1984年论文
@zh
1984年论文
@zh-cn
name
Unusual scarcity of restrictio ...... efective thyroglobulin allele.
@ast
Unusual scarcity of restrictio ...... efective thyroglobulin allele.
@en
type
label
Unusual scarcity of restrictio ...... efective thyroglobulin allele.
@ast
Unusual scarcity of restrictio ...... efective thyroglobulin allele.
@en
prefLabel
Unusual scarcity of restrictio ...... efective thyroglobulin allele.
@ast
Unusual scarcity of restrictio ...... efective thyroglobulin allele.
@en
P2093
P356
P1433
P1476
Unusual scarcity of restrictio ...... efective thyroglobulin allele.
@en
P2093
G J van Ommen
J J de Vijlder
P2888
P304
P356
10.1007/BF00291357
P50
P577
1984-01-01T00:00:00Z