๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Phenotypic variability in two families with novel splice-site and frameshiftNF2mutations

โœ Scribed by V.-F. Mautner; M. E. Baser; Lan Kluwe


Publisher
Springer
Year
1996
Tongue
English
Weight
41 KB
Volume
98
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Phenotypic variability associated with 1
โœ Kluwe, Lan ;MacCollin, Mia ;Tatagiba, Marcos ;Thomas, Sebastian ;Hazim, Wasim ;H ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 47 KB ๐Ÿ‘ 2 views

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder caused by mutations in the NF2 gene. Patients carrying NF2 mutations are predisposed to cerebral and spinal tumors with bilateral vestibular schwannomas as the hallmark. Using single strand conformation polymorphism and temperature gra

Aceruloplasminemia: A novel mutation in
โœ Alfonso Fasano; Cesare Colosimo; Hiroaki Miyajima; Pietro Attilio Tonali; Thomas ๐Ÿ“‚ Article ๐Ÿ“… 2008 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 189 KB

## Abstract Hereditary aceruloplasminemia (HA) is a rare inherited disease characterized by anemia, iron overload, diabetes, and neurodegeneration. HA is caused by the homozygous mutation of the ceruloplasmin (CP) gene. We report two siblings with markedly different phenotypes carrying a novel muta

A novel splice site mutation in the TRIM
โœ P. Jagiello; C. Hammans; S. Wieczorek; L. Arning; A. Stefanski; H. Strehl; J.T. ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 321 KB

Mulibrey nanism (muscle-liver-brain-eye nanism; MUL) is an autosomal recessively transmitted disease characterized by severe growth delays of prenatal onset caused by mutations in the TRIM37 gene. Recent studies on the subcellular localization revealed that the TRIM37 (KIAA0898) protein is located i