Literature DB >> 8051927

Point mutation in Pompe disease in Chinese.

J J Shieh1, L Y Wang, C Y Lin.   

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Year:  1994        PMID： 8051927     DOI： 10.1007/bf00735421

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  9 in total

1.  Preparation of monoclonal antibodies against acid alpha-D-glucosidase for study of Chinese glycogenosis type II patients.

Authors:  C Y Lin; S Y Lee; Z N Chang; S N Su; B Hwang; S H Han
Journal:  Hybridoma       Date:  1992-08

2.  Pompe's disease in Chinese and prenatal diagnosis by determination of alpha-glucosidase activity.

Authors:  C Y Lin; B Hwang; K J Hsiao; Y R Jin
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

3.  Detection of two restriction endonuclease activities in Haemophilus parainfluenzae using analytical agarose--ethidium bromide electrophoresis.

Authors:  P A Sharp; B Sugden; J Sambrook
Journal:  Biochemistry       Date:  1973-07-31       Impact factor: 3.162

4.  Alpha-1,4 glucosidase activity in Pompe's disease.

Authors:  I S Salafsky; H L Nadler
Journal:  J Pediatr       Date:  1971-11       Impact factor: 4.406

5.  Transcription maps of polyoma virus-specific RNA: analysis by two-dimensional nuclease S1 gel mapping.

Authors:  J Favaloro; R Treisman; R Kamen
Journal:  Methods Enzymol       Date:  1980       Impact factor: 1.600

6.  Efficient in vitro synthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter.

Authors:  D A Melton; P A Krieg; M R Rebagliati; T Maniatis; K Zinn; M R Green
Journal:  Nucleic Acids Res       Date:  1984-09-25       Impact factor: 16.971

7.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205

8.  Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.

Authors:  B H Paw; M M Kaback; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1989-04       Impact factor: 11.205

9.  Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.

Authors:  L H Hoefsloot; M Hoogeveen-Westerveld; M A Kroos; J van Beeumen; A J Reuser; B A Oostra
Journal:  EMBO J       Date:  1988-06       Impact factor: 11.598
  9 in total
  3 in total

1.  Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.

Authors:  L Wan; C-C Lee; C-M Hsu; W-L Hwu; C-C Yang; C-H Tsai; F-J Tsai
Journal:  J Neurol       Date:  2008-05-06       Impact factor: 4.849

2.  Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.

Authors:  H Tsunoda; T Ohshima; J Tohyama; M Sasaki; N Sakuragawa; F Martiniuk
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

3.  Chapter 15: disease gene prioritization.

Authors:  Yana Bromberg
Journal:  PLoS Comput Biol       Date:  2013-04-25       Impact factor: 4.475
  3 in total

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