(Q72921430)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8370574%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

title

Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8370574%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

author name string

Y Yamada

1

1 reference

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30 October 2019

S Tomatsu

2

1 reference

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30 October 2019

K Sukegawa

3

1 reference

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30 October 2019

Y Suzuki

4

1 reference

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30 October 2019

N Kondo

5

1 reference

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30 October 2019

J J Hopwood

6

1 reference

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30 October 2019

T Orii

7

1 reference

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30 October 2019

publication date

1 September 1993

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30 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8370574%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

volume

92

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30 October 2019

issue

2

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30 October 2019

page(s)

110-114

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https://scigraph.springernature.com/pub.10.1007/bf00219675

30 October 2019

exact match

0 references

cites work

A new DNA marker tightly linked to the fragile X locus (FRAXA).

1 reference

12 December 2020

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA

1 reference

12 December 2020

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

1 reference

12 December 2020

Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene

1 reference

12 December 2020

Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene

1 reference

12 December 2020

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

1 reference

12 December 2020

Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties

1 reference

12 December 2020

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

1 reference

12 December 2020

Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

1 reference

12 December 2020

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mut

1 reference

12 December 2020

The iduronate sulfatase gene: Isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome

1 reference

12 December 2020

Characterization of five partial deletions of the factor VIII gene

1 reference

12 December 2020

Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

1 reference

12 December 2020

Duchenne muscular dystrophy: high frequency of deletions

1 reference

12 December 2020

Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm

1 reference

12 December 2020

Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene

1 reference

12 December 2020

Report of the committee on the genetic constitution of the X chromosome

1 reference

12 December 2020

Parental age and mutation

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00219675

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8370574%20AND%20SRC:MED&resulttype=core&format=json

30 October 2019

1 reference