✦ LIBER ✦

Novel mutations of APOB cause apoB truncations undetectable in plasma and familial hypobetalipoproteinemia

✍ Scribed by Pin Yue; Bo Yuan; Daniela S. Gerhard; Rosalind J. Neuman; William L. Isley; William S. Harris; Gustav Schonfeld

Book ID: 102258660
Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 50 KB
Volume: 20
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.10135

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel mutations of APOB cause ApoB trunc

Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia

✍ Pin Yue; Bo Yuan; Daniela S. Gerhard; Rosalind J. Neuman; William L. Isley; Will 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 152 KB

Familial hypobetalipoproteinemia (FHBL) is a genetic disorder characterized by low levels of apoB-100 and LDL cholesterol. Truncation-producing mutations of apoB (chromosome 2) are among several potential causes of FHBL in patients. Ten new families with FHBL linked to chromosome 2 were identified.

Four novel mutations in APOB causing het

Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia

✍ A.J. Whitfield; A.D. Marais; K. Robertson; P.H.R. Barrett; F.M. van Bockxmeer; J 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 48 KB

Familial hypobetalipoproteinemia (FHBL) is a rare codominant disorder of lipoprotein metabolism characterized by low levels of low-density lipoprotein (LDL) cholesterol and apolipoprotein (apo) B. Heterozygotes for FHBL have less-than-half normal LDL-cholesterol and apoB concentrations, whereas homo

Donor splice mutation (665 + 1 G_T) in f

Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation

✍ Pulai, Judit I.; Zakeri, Hamideh; Kwok, Pui-Yan; Kim, Jeong Ho; Wu, Jingshi; Sch 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 2 views

We report a 49-member four-generation kindred in which 11 members express familial hypobetalipoproteinemia (FHBL). In other kindreds, various truncated apoB species cosegregate with the FHBL phenotype. In contrast, no truncated apoB proteins were found by immunoblotting of plasma samples in this kin

Regulation of the apolipoprotein B in he

Regulation of the apolipoprotein B in heterozygous hypobeta-lipoproteinemic knock-out mice expressing truncated apoB, B81. Low production and enhanced clearance of apoB cause low levels of apoB

✍ Rai Ajit K. Srivastava; L. Toth; Neelam Srivastava; Myron E. Hinsdale; Nobuyo Ma 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 152 KB

Novel truncating mutations in PKP1 and D

Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families

✍ A. Tanaka; J.E. Lai-Cheong; M.E.M. Café; B. Gontijo; P.R. Salomão; L. Pereira; J 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 738 KB

Novel mutations and the emergence of a c

Novel mutations and the emergence of a common mutation in theSDHD gene causing familial paraganglioma

✍ Milunsky, Jeff M. ;Maher, Thomas A. ;Michels, Virginia V. ;Milunsky, Aubrey 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 71 KB 👁 2 views