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Allele frequency analysis of GALC gene causing Krabbe disease in human and its codon usage.
Gene. 2020 Jul 15;747:144673. doi: 10.1016/j.gene.2020.144673. Epub 2020 Apr 15.
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A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.
Neurol Sci. 2018 Dec;39(12):2123-2128. doi: 10.1007/s10072-018-3556-2. Epub 2018 Sep 12.
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Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Hum Mutat. 2010 Dec;31(12):E1894-914. doi: 10.1002/humu.21367.
8
Continuous linkage map of human chromosome 14 short tandem repeat polymorphisms.
Genomics. 1992 Jul;13(3):532-6. doi: 10.1016/0888-7543(92)90121-8.
9
Four novel GALC gene mutations in two Chinese patients with Krabbe disease.
Gene. 2013 May 1;519(2):381-4. doi: 10.1016/j.gene.2013.02.010. Epub 2013 Feb 24.

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Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.
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Krabbe Disease in the Arab World.
J Pediatr Genet. 2015 Mar;4(1):1-8. doi: 10.1055/s-0035-1554981.

本文引用的文献

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Strategies for multilocus linkage analysis in humans.
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. doi: 10.1073/pnas.81.11.3443.
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Krabbe disease: increased incidence in a highly inbred community.
Am J Med Genet. 1985 Aug;21(4):765-70. doi: 10.1002/ajmg.1320210420.
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Dinucleotide repeat polymorphism at the D14S43 locus.
Nucleic Acids Res. 1991 Apr 11;19(7):1722. doi: 10.1093/nar/19.7.1722.
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Dinucleotide repeat polymorphism at the D14S45 locus.
Nucleic Acids Res. 1991 Aug 11;19(15):4308. doi: 10.1093/nar/19.15.4308.
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Continuous linkage map of human chromosome 14 short tandem repeat polymorphisms.
Genomics. 1992 Jul;13(3):532-6. doi: 10.1016/0888-7543(92)90121-8.

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