Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency-Reference-Cited by-同舟云学术

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Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency

Published:2001-10 Issue:4 Volume:117 Page:997-999
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Valdes-Flores Margarita,Jimenez Vaca Ana L.,Rivera-Vega Maria R.,Kofman-Alfaro Susana H.,Cuevas-Covarrubias Sergio A.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference28 articles.

1. Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein;Alperin;J Biol Chem,1997

2. Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques;Aviram-Goldring;Int J Dermatol,2000

3. Sulfatase activity of keratinizing tissues in X-linked ichthyosis;Baden;Pediatr Res,1980

4. Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 7 unrelated patients, at DNA and protein levels;Ballabio;Genomics,1989

5. Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification;Ballabio;Hum Genet,1990

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients;Experimental Dermatology;2018-07-02

2. Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population;Journal of the European Academy of Dermatology and Venereology;2010-09-02

3. Novel missense mutation (Arg432Cys) in a patient with steroid sulphatase-deficiency;Clinical Endocrinology;2003-07-16

4. Somatic and Germinal Mosaicism for the Steroid Sulfatase Gene Deletion in a Steroid Sulfatase Deficiency Carrier;Journal of Investigative Dermatology;2002-10

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