Literature DB >> 2208768

Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion.

E Legius1, E Baten, M Stul, P Marynen, J J Cassiman.   

Abstract

Somatic mosaicism for a deletion in the ornithine transcarbamylase gene is described in a boy with sporadic late onset ornithine transcarbamylase deficiency. These findings are discussed in relation to the clinical picture of the patient and in relation to genetic counseling.

Entities:  

Mesh：

Substances：

Year:  1990        PMID： 2208768     DOI： 10.1111/j.1399-0004.1990.tb03565.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

1.  Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

Authors:  D M Milewicz; A M Witz; A C Smith; D K Manchester; G Waldstein; P H Byers
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

2.  Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

Authors:  A J van Essen; S Abbs; M Baiget; E Bakker; C Boileau; C van Broeckhoven; K Bushby; A Clarke; M Claustres; A E Covone
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

3.  Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation.

Authors:  Tomoko Lee; Maiko Misaki; Hideki Shimomura; Yasuhiko Tanaka; Satoru Yoshida; Kei Murayama; Kimitoshi Nakamura; Ryoji Fujiki; Osamu Ohara; Hideo Sasai; Toshiyuki Fukao; Yasuhiro Takeshima
Journal:  Hum Genome Var       Date:  2018-08-16
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.