(Q22122364)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1852198

10 December 2022

1

Victor A. McKusick

Victor A.

McKusick

1 reference

Dimensions Publication ID

Dimensions

1037929279

full work available at URL

6 February 2023

language of work or name

English

0 references

publication date

25 July 1991

0 references

http://www.nature.com/articles/352279a0

1 reference

https://api.crossref.org/works/10.1038/352279A0

http://www.nature.com/articles/352279a0.pdf

10 December 2022

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1038/352279A0

10 December 2022

0 references

352

0 references

issue

6333

0 references

page(s)

279-281

0 references

cites work

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

1 reference

7 January 2021

Partial sequence of a candidate gene for the Marfan syndrome

1 reference

7 January 2021

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

1 reference

7 January 2021

The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue

1 reference

7 January 2021

A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin

1 reference

7 January 2021

Abnormal human haemoglobins. III. The chemical difference between normal and sickle cell haemoglobins

1 reference

7 January 2021

Brittle bones--fragile molecules: disorders of collagen gene structure and expression

1 reference

7 January 2021

Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome

1 reference

7 January 2021

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

1 reference

7 January 2021

Location on chromosome 15 of the gene defect causing Marfan syndrome

1 reference

7 January 2021

The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.

1 reference

7 January 2021

HOMOCYSTINURIA: A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY.

1 reference

7 January 2021

HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.

1 reference

7 January 2021

https://api.crossref.org/works/10.1038/352279A0

22

64

30

R Demak

1986

1 reference