(Q35569756)

8 August 2017

title

Phenotypic diversity of human diseases resulting from allelic series (English)

1 reference

8 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4577464

7 February 2023

author name string

V. A. McKusick

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4577464

7 February 2023

language of work or name

English

0 references

publication date

1 July 1973

1 reference

full work available at URL

8 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/4577464/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4577464

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/4577464/pdf/?tool=EBI

7 February 2023

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4577464

https://europepmc.org/articles/PMC1762449

7 February 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4577464

https://europepmc.org/articles/PMC1762449?pdf=render

7 February 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4577464

American Journal of Human Genetics

7 February 2023

published in

1 reference

8 August 2017

volume

25

1 reference

8 August 2017

issue

4

1 reference

8 August 2017

page(s)

446-456

1 reference

Linkage of color blindness to hemophilias A and B.

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

Inheritance of factor XIII.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

Studies of cystathionine synthase of rat liver: Dissociation into two components by sodium dodecyl sulfate disc electrophoresis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

Procollagen peptidase: an enzyme excising the coordination peptides of procollagen

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

Interallelic Complementation in Hybrid Cells Derived from Human Diploid Strains Deficient in Galactose-1-Phosphate Uridyl Transferase Activity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

A Duarte variant with clinical signs

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

Reversible dissociation of carbamyl phosphate synthetase into a regulated synthesis subunit and a subunit required for glutamine utilization

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

A new variant of the placental acid phosphatases: its implications regarding their subunit structures and genetical determination

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

On lumpers and splitters, or the nosology of genetic disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

Scheie and Hurler syndromes: apparent identity of the biochemical defect

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762449

Transfusion Studies in von Willebrand's Disease: Effect on Bleeding Time and Factor VIII

26 September 2018

1 reference

12 December 2020

Properties and Inheritance of Hæmoglobin by Asymmetric Recombination

1 reference

12 December 2020

Distinct Subunits for the Regulation and Catalytic Activity of Aspartate Transcarbamylase*

1 reference

12 December 2020

Cystinuria: Genetic Heterogeneity and Allelism

1 reference

12 December 2020

Studies on the subunit structure of rabbit liver fructose diphosphatase

1 reference

12 December 2020

The role of α-lactalbumin in lactose synthetase

1 reference

12 December 2020

Inborn errors of mucopolysaccharide metabolism

1 reference

12 December 2020

Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase

1 reference

12 December 2020

The Subunit Structures of Human Plasma and Platelet Factor XIII (Fibrinstabilizing Factor)

1 reference

12 December 2020

A correlation of intracellular cerebroside sulfatase activity in fibroblasts with latency in metachromatic leukodystrophy

1 reference

12 December 2020

Genetic Heterogeneity of Xeroderma Pigmentosum demonstrated by Somatic Cell Hybridization

1 reference

12 December 2020

Deficiency of α-L-Fucosidase

1 reference

12 December 2020

Purification and properties of an alpha-L-fucosidase from rat epididymis

1 reference

12 December 2020

Protein subunits: A table (revised edition)

1 reference

12 December 2020

Identifiers

PMC publication ID

1762449

1 reference

8 August 2017

1 reference