(Q28289891)

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

19 October 2022

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

19 October 2022

author name string

R. H. Flomen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1639384

19 October 2022

P. M. Green

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1639384

19 October 2022

D. R. Bentley

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1639384

19 October 2022

F. Giannelli

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1639384

19 October 2022

E. P. Green

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1639384

full work available at URL

19 October 2022

language of work or name

English

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publication date

July 1992

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https://api.elsevier.com/content/article/PII:088875439290123A?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

https://api.elsevier.com/content/article/PII:088875439290123A?httpAccept=text/plain

19 October 2022

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

19 October 2022

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13

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issue

3

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page(s)

543-50

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cites work

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

3

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

DNA methylation and the frequency of CpG in animal DNA.

19 October 2022

4

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

Genetics of Hunter syndrome: carrier detection, new mutations, segregation and linkage analysis

19 October 2022

5

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

19 October 2022

6

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

19 October 2022

7

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots

19 October 2022

9

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity

19 October 2022

11

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

Direct detection of point mutations by mismatch analysis: application to haemophilia B.

19 October 2022

14

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene

19 October 2022

15

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

Exon definition may facilitate splice site selection in RNAs with multiple exons

19 October 2022

18

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

Point mutations in the dystrophin gene

19 October 2022

19

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase

19 October 2022

20

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

New informative polymorphism at the DXS304 locus, a close distal marker for the fragile X locus

19 October 2022

21

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

DNA sequencing with chain-terminating inhibitors

19 October 2022

22

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

cDNA cloning, nucleotide sequence and expression of the gene for arylsulfatase in the sea urchin (Hemicentrotus pulcherrimus) embryo.

19 October 2022

23

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

Incidence of mucopolysaccharidoses in Israel: is Hunter disease a "Jewish disease"?

19 October 2022

24

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

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

19 October 2022

28

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange

19 October 2022

30

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

A clinical and genetic study of Hunter's syndrome. 1. Heterogeneity

19 October 2022

31

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

Heterozygote detection in Hunter syndrome

19 October 2022

33

1 reference

https://api.crossref.org/works/10.1016/0888-7543(92)90123-A

19 October 2022

Identifiers

0 references