(Q81019615)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16086173%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Common silent mutations in all types of hereditary complement C1q deficiencies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16086173%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Franz Petry

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16086173%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Michael Loos

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16086173%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

publication date

29 September 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16086173%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16086173%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16086173%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16086173%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

page(s)

566-571

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16086173%20AND%20SRC:MED&resulttype=core&format=json

Linking C5 deficiency to an exonic splicing enhancer mutation

5 January 2020

cites work

1 reference

12 December 2020

Molecular basis of a new type of C1q-deficiency associated with a non-functional low molecular weight (LMW) C1q: parallels and differences to other known genetic C1q-defects

1 reference

12 December 2020

Molecular basis of hereditary C1q deficiency

1 reference

12 December 2020

A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual

1 reference

12 December 2020

Molecular, genetic and epidemiologic studies on selective complete C1q deficiency in Turkey

1 reference

12 December 2020

Localization of the gene cluster encoding the A, B, and C chains of human C1q to 1p34.1-1p36.3

1 reference

12 December 2020

C1q and systemic lupus erythematosus

1 reference

12 December 2020

Complement. First of two parts

1 reference

12 December 2020

Non-sense and missense mutations in the structural genes of complement component C1q A and C chains are linked with two different types of complete selective C1q deficiencies

1 reference

12 December 2020

Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and functional analysis

1 reference

12 December 2020

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

12 December 2020

Complete functional C1q deficiency associated with systemic lupus erythematosus (SLE)

1 reference

12 December 2020

Characterization and organization of the genes encoding the A-, B- and C-chains of human complement subcomponent C1q. The complete derived amino acid sequence of human C1q

1 reference

12 December 2020

Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material

1 reference

12 December 2020

Homozygous single nucleotide polymorphism of the complement C1QA gene is associated with decreased levels of C1q in patients with subacute cutaneous lupus erythematosus

1 reference

12 December 2020

Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family

1 reference

12 December 2020

Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families

1 reference

12 December 2020