𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Apo A-IMiyagi(947delA): A novel deletion in the apolipoprotein A-I gene associated with familial hypoalphalipoproteinemia

✍ Scribed by Shigeo Kure; Dian-Chang Hou; Michinori Sato; Yoichi Matsubara; Kuniaki Narisawa


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
10 KB
Volume
13
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


A novel four base-pair deletion within t
✍ Huang, Xiao-Dong; Yang, Xuexian O.; Huang, Rui-Bin; Zhang, Hong-Yuan; Zhao, Hua- πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 70 KB πŸ‘ 1 views

We studied a Chinese family and revealed 5.4% and 3.2% fetal hemoglobin (HbF) with advantageously Aβ₯ type in the mother and the daughter, respectively, using alkali denaturation assay and urea-Triton-acrylamide gel electrophoresis and high-performance liquid chromatography. The father's HbF was less

A novel homeobox mutation in the PITX2 g
✍ Faisal Idrees; Agnes Bloch-Zupan; Samantha L. Free; Daniela Vaideanu; Pamela J. πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 252 KB πŸ‘ 2 views

## Abstract Axenfeld‐Rieger Syndrome (ARS) is a genetically heterogeneous birth defect characterized by malformation of the anterior segment of the eye associated with glaucoma. Mutation of the __PITX2__ homeobox gene has been identified as a cause of ARS. We report a novel Arg5Trp missense mutatio

A missense (T577I) mutation in the lutei
✍ Sandro Cocco; Antonella Meloni; Maria Giuseppina Marini; Antonio Cao; Paolo Moi πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 229 KB πŸ‘ 2 views

## Communicated trj F a d Chehab Familial male-limited precocious puberty (FMPP) is an autosomal dominant condition that affects exclusively boys. The isosexual precocious