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Literature DB >> 7649557

Two highly polymorphic CA repeats in the Menkes gene (ATP7A).

C R Begy¹, H A Dierick, J W Innis, T W Glover.

Abstract

Two highly polymorphic CA repeats have been identified in the Menkes gene (ATP7A). These repeats should be useful for prenatal diagnosis and carrier detection in families with Menkes disease and X-linked cutis laxa. The observed heterozygosity for these two repeats was 0.778 and 0.60 in Centre d'Etude du Polymorphisme Humaine (CEPH) families.

Entities: Disease Gene

Mesh：

Substances：

Year: 1995 PMID： 7649557 DOI： 10.1007/bf00210423

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

5 in total

1. Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1.

Authors: V Verga; B K Hall; S R Wang; S Johnson; J V Higgins; T W Glover
Journal: Am J Hum Genet Date: 1991-06 Impact factor: 11.025

2. Diverse mutations in patients with Menkes disease often lead to exon skipping.

Authors: S Das; B Levinson; S Whitney; C Vulpe; S Packman; J Gitschier
Journal: Am J Hum Genet Date: 1994-11 Impact factor: 11.025

3. Isolation of a partial candidate gene for Menkes disease by positional cloning.

Authors: J F Mercer; J Livingston; B Hall; J A Paynter; C Begy; S Chandrasekharappa; P Lockhart; A Grimes; M Bhave; D Siemieniak
Journal: Nat Genet Date: 1993-01 Impact factor: 38.330

4. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.

Authors: S G Kaler; L K Gallo; V K Proud; A K Percy; Y Mark; N A Segal; D S Goldstein; C S Holmes; W A Gahl
Journal: Nat Genet Date: 1994-10 Impact factor: 38.330

5. Molecular structure of the Menkes disease gene (ATP7A).

Authors: H A Dierick; L Ambrosini; J Spencer; T W Glover; J F Mercer
Journal: Genomics Date: 1995-08-10 Impact factor: 5.736

5 in total

3 in total

Two highly polymorphic CA repeats in the Menkes gene (ATP7A).

1. Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1.

2. Diverse mutations in patients with Menkes disease often lead to exon skipping.

3. Isolation of a partial candidate gene for Menkes disease by positional cloning.

4. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.

5. Molecular structure of the Menkes disease gene (ATP7A).

Review 1. Menkes disease: recent advances and new aspects.

Review 2. Menkes disease: underlying genetic defect and new diagnostic possibilities.

3. Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.