✦ LIBER ✦

A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency

✍ Scribed by Anne M. Remes; Sirpa A. Filppula; Heikki Rantala; Jaakko Leisti; Aimo Ruokonen; Satyan Sharma; André H. Juffer; J. Kalervo Hiltunen

Publisher: Springer
Year: 2004
Tongue: English
Weight: 486 KB
Volume: 82
Category: Article
ISSN: 0946-2716
DOI: 10.1007/s00109-004-0563-y

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel mutation of SACS gene in a Spanish

Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia

✍ Chiara Criscuolo; Francesco Saccà; Giuseppe De Michele; Pietro Mancini; Onofre C 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 215 KB

## Abstract Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early‐onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We repor

A novel nonsense mutation in theDMP1gene

A novel nonsense mutation in theDMP1gene in a Japanese family with autosomal recessive hypophosphatemic rickets

✍ Ryusuke Koshida; Hideki Yamaguchi; Koji Yamasaki; Wakaba Tsuchimochi; Tadato Yon 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 292 KB

A novel deletion mutation inCENPJgene in

A novel deletion mutation inCENPJgene in a Pakistani family with autosomal recessive primary microcephaly

✍ Asma Gul; Muhammad Jawad Hassan; Sabir Hussain; Syed Irfan Raza; Muhammad Salman 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 210 KB

Detection of a novel FH whole gene delet

Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency

✍ Amelia R. Mroch; Mark Laudenschlager; Jason D. Flanagan 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 189 KB 👁 2 views

Mutation analysis of the parkin gene in

Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism

✍ Sergei N. Illarioshkin; Magali Periquet; Nina Rawal; Christoph B. Lücking; Tatya 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 833 KB

## Abstract Autosomal recessive juvenile parkinsonism (AR‐JP) is a form of hereditary parkinsonism characterized by variable clinical presentations and caused by mutations in a novel gene, __parkin__, on chromosome 6q25.2–27. Until now, no Russian cases of __parkin__‐associated AR‐JP have been repo

Unusual presentation of a severe autosom

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene

✍ Hala Mégarbané; Céline Cluzeau; Christine Bodemer; Sylvie Fraïtag; Myrna Chababi 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 179 KB 👁 2 views

## Abstract We report on an 18‐year‐old woman, born to first‐cousin parents, presenting with a severe form of anhydrotic ectodermal dysplasia (EDA/HED). She had sparse hair, absent limb hair, absent sweating, episodes of hyperpyrexia, important hypodontia, and hyperconvex nails. She also showed unu