(Q47383573)

15 January 2018

title

The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases (English)

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15 January 2018

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4

Clair A Francomano

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15 January 2018

author name string

Maaret Ridanpää

1

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15 January 2018

Pawan Jain

2

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15 January 2018

Victor A McKusick

3

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15 January 2018

Ilkka Kaitila

5

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15 January 2018

publication date

1 August 2003

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15 January 2018

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

published in

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15 January 2018

volume

121C

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15 January 2018

issue

1

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15 January 2018

page(s)

81-83

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15 January 2018

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

cites work

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https://api.crossref.org/works/10.1002%2FAJMG.C.20006

Disease gene mapping in isolated human populations: the example of Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.20006

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.20006

Cystic fibrosis in the Ohio Amish: gene frequency and founder effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.20006

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.20006

Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.20006

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.20006

Increased incidence of cancer in patients with cartilage-hair hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.20006

Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.20006

Increased mortality in cartilage-hair hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.20006

The Finnish population structure A genetic and genealogical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.20006

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.20006

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.20006

High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.20006

Architecture and function of the human endonucleases RNase P and RNase MRP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.20006

Christmas disease, color-blindness and blood group Xga

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.20006

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.20006

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15 January 2018

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15 January 2018