Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels-Reference-Cited by-同舟云学术

Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels

Published:1989-01 Issue:1 Volume:4 Page:36-40
ISSN:0888-7543
Container-title:Genomics
language:en
Short-container-title:Genomics

Author:

Ballabio A.,Carrozzo R.,Parenti G.,Gil A.,Zollo M.,Persico M.G.,Gillard E.,Affara N.,Yates J.,Ferguson-Smith M.A.,Frants R.R.,Eriksson A.W.,Andria G.

Publisher

Elsevier BV

Subject

Genetics

Reference19 articles.

1. Steroid sulphatase deficiency is present in patients with X-linked ichthyosis and male hypogonadism and with Rud syndrome;Andria;J. Inherited Metab. Dis,1984

2. Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency;Ballabio;Hum. Genet,1985

3. X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): Linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome;Ballabio;Hum. Genet,1986

4. Isolation and characterisation of a steroid sulphatase cDNA clone: Genomic deletions in patients with X-linked ichthyosis;Ballabio,1987

5. Deletions of the steroid sulphatase gene in “classical” X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome;Ballabio;Hum. Genet,1987

Cited by 97 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. Potential anti-amoebic activity of sulfonate- and sulfamate-containing carboxamide derivatives against pathogenic Acanthamoeba castellanii belonging to the genotype T4;Parasitology International;2024-02

2. Case report: Sex-specific characteristics of epilepsy phenotypes associated with Xp22.31 deletion: a case report and review;Frontiers in Genetics;2023-06-06

3. STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity;British Journal of Dermatology;2022-11-01

4. Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism;The Journal of Clinical Endocrinology & Metabolism;2022-05-16

5. X-Linked Familial Focal Epilepsy Associated With Xp22.31 Deletion;Pediatric Neurology;2020-07