(Q40139594)

17 September 2017

title

Detection of Fabry's disease heterozygotes by hair root analysis (English)

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB01178.X

30 May 2022

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB01178.X

30 May 2022

1 reference

A. L. Beaudet

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A205381

30 May 2022

C. T. Caskey

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A205381

30 May 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=205381

30 May 2022

publication date

1 March 1978

1 reference

full work available at URL

17 September 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1978.tb01178.x

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB01178.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1978.tb01178.x/fullpdf

30 May 2022

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB01178.X

30 May 2022

1 reference

17 September 2017

volume

13

1 reference

17 September 2017

issue

3

1 reference

17 September 2017

page(s)

251-258

1 reference

Variation in the phenotypic expression of beta-glucuronidase deficiency

17 September 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB01178.X

Human gene mapping 3. Baltimore Conference (1975). Third International Workshop on Human Gene Mapping. Report of the committee on the genetic constitution of the X and Y chromosomes

30 May 2022

2

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB01178.X

Studies on hair roots for carrier detection in hypoxanthine-quanine phosphoribosyl transferase deficiency

30 May 2022

3

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB01178.X

The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease

30 May 2022

5

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB01178.X

Glucose-6 phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells

30 May 2022

6

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB01178.X

Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles

30 May 2022

7

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB01178.X

Fabry's disease: heterozygote detection by hair root analysis

30 May 2022

8

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB01178.X

The occurrence of ectodermal dysplasia and corneal dysplasia in one family: an inquiry into the mode of inheritance

30 May 2022

0 references

The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus

11

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB01178.X

Genetic Inactivation of the α-Galactosidase Locus in Carriers of Fabry's Disease

30 May 2022

12

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB01178.X

Spontaneous mutation in man

30 May 2022

16

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.1978.TB01178.X

6 January 2023

Identifiers

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=205381

30 May 2022

1 reference