Characterization of the large deletion in the GALC gene found in patients with Krabbe disease.
about
Identification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseThe genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletionMolecular heterogeneity of late-onset forms of globoid-cell leukodystrophyPol32, a subunit of Saccharomyces cerevisiae DNA polymerase delta, suppresses genomic deletions and is involved in the mutagenic bypass pathway.New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperonesMMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endingsKrabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.Impact of transposable elements on the human genome.GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex diseaseArray CGH improves detection of mutations in the GALC gene associated with Krabbe disease.DNA polymerases δ and λ cooperate in repairing double-strand breaks by microhomology-mediated end-joining in Saccharomyces cerevisiaeDeletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.A microglial hypothesis of globoid cell leukodystrophy pathology.The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.Treatment for Krabbe's disease: Finding the combination.Immunological considerations for treating globoid cell leukodystrophy.Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.Newborn screening for Krabbe disease in New York State: the first eight years' experience.Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis.
P2860
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P2860
Characterization of the large deletion in the GALC gene found in patients with Krabbe disease.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Characterization of the large ...... patients with Krabbe disease.
@en
type
label
Characterization of the large ...... patients with Krabbe disease.
@en
prefLabel
Characterization of the large ...... patients with Krabbe disease.
@en
P2093
P356
P1476
Characterization of the large ...... patients with Krabbe disease.
@en
P2093
P304
P356
10.1093/HMG/4.12.2335
P577
1995-12-01T00:00:00Z