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A case of glycogen storage disease type Ia with multiple hepatic adenomas and G727T mutation in the glucose-6-phosphatase gene, and a comparison with other mutations previously reported. [electronic resource] by
- Karasawa, Y
- Kobayashi, M
- Nakano, Y
- Aoki, Y
- Kawa, S
- Kiyosawa, K
- Seki, H
- Kawasaki, S
- Furihata, K
- Itoh, N
Producer: 19980915
In:
The American journal of gastroenterology vol. 93
Availability: No items available.
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1098.
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1099.
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Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia. [electronic resource] by
- Smith, Bradley N
- Evans, Catherine
- Ali, Akbar
- Ancliff, Phil J
- Hayee, Bu'hussain
- Segal, Anthony W
- Hall, Georgina
- Kaya, Zuhre
- Shakoori, Abdul Rauf
- Linch, David C
- Gale, Rosemary E
Producer: 20121030
In:
British journal of haematology vol. 158
Availability: No items available.
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1100.
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Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis. [electronic resource] by
- Miao, Hefan
- Zhou, Jiapeng
- Yang, Qi
- Liang, Fan
- Wang, Depeng
- Ma, Na
- Gao, Bodi
- Du, Juan
- Lin, Ge
- Wang, Kai
- Zhang, Qianjun
Producer: 20181012
In:
Hereditas vol. 155
Availability: No items available.
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