𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD)

✍ Scribed by Abidemi Adegbola; Hanlin Gao; Steve Sommer; Marsha Browning


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
356 KB
Volume
146A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Novel missense mutation (Y231C) in a Tur
✍ Rady, Peter L.; Vargas, Trini; Tyring, Stephen K.; Matalon, Reuben; Langenbeck, πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 11 KB πŸ‘ 2 views

## To the Editor: Canavan disease (CD) is an autosomal recessive neurodegenerative disorder affecting white matter and leading to spongy degeneration. Macroencephaly is characteristic in children with this severe leukodystrophy. The disease is caused by the deficiency of aspartoacylase (ASPA) and i

A mutation in PEX19 causes a severe clin
✍ Sarar Mohamed; Ebtisam El-Meleagy; Abdelhaleem Nasr; Merel S. Ebberink; Ronald J πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 93 KB πŸ‘ 1 views

## Abstract Peroxisomal biogenesis disorders (PBD) are groups of inherited neurometabolic disorders caused by defects in PEX genes. We report on a female infant, born to a consanguineous parents (first degree cousins), who presented with inactivity, poor sucking, and hypotonia early in the neonatal

Novel ANKH mutation in a patient with sp
✍ Allison Zajac; Seung-Hak Baek; Imad Salhab; Melissa A. Radecki; Sukwha Kim; Hako πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 311 KB πŸ‘ 1 views

## Abstract Craniometaphyseal dysplasia is caused by mutations in __ANKH__ (ankylosis, progressive homolog [mouse]) in the majority of cases, and all of the reported mutations are single amino acid changes. Genomic DNA from an affected patient, his biological parents, and a sibling was amplified an