(Q28213604)

English

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms

scientific article (publication date: February 2002)

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scholarly article

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RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms (English)

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single-nucleotide polymorphism

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based on heuristic

inferred from title

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author name string

L Bonafé

1

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K Schmitt

2

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G Eich

3

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A Giedion

4

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A Superti-Furga

5

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language of work or name

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publication date

February 2002

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Clinical Genetics

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61

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2

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146-51

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Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

21 January 2018

Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

21 January 2018

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

21 January 2018

Function and synthesis of small nucleolar RNAs

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

21 January 2018

Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

21 January 2018

Increased incidence of cancer in patients with cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

21 January 2018

Increased mortality in cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

21 January 2018

Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

21 January 2018

Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

21 January 2018

Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Growth in cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

7 January 2021

based on heuristic

inferred from DOI database lookup

The evolution of the RNase P- and RNase MRP-associated RNAs: phylogenetic analysis and nucleotide substitution rate

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Secondary structure of RNase MRP RNA as predicted by phylogenetic comparison.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Anaemia and macrocytosis—unrecognized features in cartilage‐hair hypoplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Deficiency of humoral immunity in cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610210.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1034/J.1399-0004.2002.610210.X

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