Newborn screening for Gaucher disease in Japan.

Journal Information

Full Title: Mol Genet Metab Rep

Abbreviation: Mol Genet Metab Rep

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics & Heredity

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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4/6
66.7% Transparent
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Evidence found in paper:

"(supplemental data 1).; several different recombinant alleles and their crossover sites have been reported [ ] (supplemental data 2).; by using this primer set a 13 6 kb amplicon containing gba was obtained (supplemental data 1)."

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"Declaration of Competing Interest All authors declare that there are no conflicts of interest associated with this study."

Evidence found in paper:

"Funding This study was supported in part by a Health and Labor Sciences Research Grant for Research on Rare and Intractable Diseases from the 10.13039/501100003478Ministry of Health, Labour and Welfare, Japan (grant number JPMH20FC1025); a Grant-in-Aid for Practical Research Project for Rare/Intractable Diseases from the 10.13039/100009619Japan Agency for Medical Research and Development (AMED; grant numbers JP19ek0109276, JP20ek0109482); and a Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science, and Technology, Japan (10.13039/501100001691Japan Society for the Promotion of Science [JSPS] KAKENHI: grant number JP20K08207)."

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Open Access
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Last Updated: Aug 05, 2025