✦ LIBER ✦

Deletion of the hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II

✍ Scribed by Beck, Michael ;Steglich, Cordula ;Zabel, Bernhard ;Dahl, Niklas ;Schwinger, Eberhard ;Hopwood, John J. ;Gal, Andreas

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 370 KB
Volume: 44
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320440123

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation in the DIA1 gene in a p

A novel mutation in the DIA1 gene in a patient with methemoglobinemia type II

✍ Deniz Yilmaz; Özgür Çogǧulu; Ferda Ozkinay; Kaan Kavakli; Dirk Roos 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 2 views

Analysis of a 43.6 kb deletion in a pati

Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene

✍ K. Lagerstedt; B.-M. Carlberg; R. Karimi-Nejad; W.J. Kleijer; M.-L. Bondeson 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 474 KB 👁 2 views

Communicated by

Persistent Mullerian duct syndrome cause

Persistent Mullerian duct syndrome caused by both a 27-bp deletion and a novel splice mutation in the MIS type II receptor gene

✍ Makiko Hoshiya; Benjamin P. Christian; William J. Cromie; Hyung Kim; Yong Zhan; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 375 KB

## Abstract ## BACKGROUND Persistent Mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism that is characterized by the persistence of Mullerian derivatives in otherwise normally virilized males. Mutations of the Mullerian inhibiting substance (MIS) gene or the MIS type II re

Identification of 16 sulfamidase gene mu

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

✍ Susanna Bunge; Hüseyin Ince; Cordula Steglich; Wim J. Kleijer; Michael Beck; Jac 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 152 KB 👁 2 views

## Communicated by Jürgen Horst Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo A disease) is a storage disorder caused by deficiency of the lysosomal enzyme sulfamidase. Mutation screening, using SSCP/heteroduplex analyses on cDNA and genomic DNA fragments, was performed in a group of 42

A compound heterozygote patient with Ehl

A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene

✍ Birgitta Pousi; Timo Hautala; James C. Hyland; Jukka Schröter; Beate Eckes; Kari 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 229 KB 👁 1 views

We report the first deletion mutation and the first splicing defect in the lysyl hydroxylase gene in a compound heterozygote patient with Ehlers-Danlos syndrome type VI with markedly reduced lysyl hydroxylase activity. Northern analysis of the RNA isolated from skin fibroblasts of the patient demons

Myelomeningocele and Waardenburg syndrom

Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: Possible digenic inheritance of a neural tube defect

✍ Nye, Jeffrey S.; Balkin, Nancy; Lucas, Heather; Knepper, Paul A.; McLone, David 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 1 views

From a spina bifida clinic we have identified two patients with a syndrome of myelomeningocele and Waardenburg syndrome type 3 (WS3). The patients each possess a single, de novo, interstitial deletion of chromosome 2 (2q35-36.2), including the PAX3 gene. Deletion of PAX3 was confirmed by fluorescenc