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Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.

The complementary and genomic DNA segments of the alpha-L-iduronidase gene from two Chinese mucopolysaccharidosis type I Hurler/Scheie (MPS IH/S) patients were amplified by polymerase chain reaction (PCR) and DNA sequencing was done to study their molecular lesions. Patient W3 has heterozygous mutat...

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Библиографические подробности
Главные авторы: Lee-Chen, G J, Wang, T R
Формат: Artigo
Язык:Inglês
Опубликовано: 1997
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051126/
https://ncbi.nlm.nih.gov/pubmed/9391892
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