(Q28207783)

Europe PubMed Central

PubMed ID

1301993

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301993

10 September 2022

H. Moser

series ordinal

2

1 reference

Europe PubMed Central

PubMed ID

1301993

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301993

10 September 2022

D. Valle

series ordinal

3

1 reference

Europe PubMed Central

PubMed ID

1301993

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301993

https://scigraph.springernature.com/pub.10.1038/ng0492-16

10 September 2022

language of work or name

English

0 references

publication date

April 1992

0 references

published in

Nature Genetics

0 references

volume

1

0 references

page(s)

16-23

0 references

issue

1

0 references

exact match

0 references

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Structural model of ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport

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Identification of peroxisomal targeting signals located at the carboxy terminus of four peroxisomal proteins

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Deficient activities and proteins of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome.

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Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis

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A human gene responsible for Zellweger syndrome that affects peroxisome assembly

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Identification of the cystic fibrosis gene: chromosome walking and jumping

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Dinucleotide repeat polymorphism at the D15S87 locus

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Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

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Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency

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Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis

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