✦ LIBER ✦

A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia

✍ Scribed by Matthew T. Hurford; Cristina Marshall-Taylor; Sandy L. Vicki; Jackie Z. Zhou; Lawrence M. Silverman; William N. Rezuke; Arnold Altman; Gregory J. Tsongalis

Book ID: 117074651
Publisher: Elsevier Science
Year: 2002
Tongue: English
Weight: 137 KB
Volume: 321
Category: Article
ISSN: 0009-8981
DOI: 10.1016/s0009-8981(02)00095-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A new mutation of the ALAS2 gene in a la

A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia

✍ Emmanuel Prades; Cécile Chambon; Tamara A. Dailey; Harry A. Dailey; Jean Brière; 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 568 KB

PP6.3 – 1724 X-linked sideroblastic anem

PP6.3 – 1724 X-linked sideroblastic anemia and ataxia: a fourth family with identification of a novel ABCB7 gene mutation

✍ D'Hooghe, M; Selleslag, D; Mortier, G; Van Coster, R; Vermeersch, P; Billiet, J; 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 66 KB

Sideroblastic anemia: molecular analysis

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations

✍ Sarah Ducamp; Caroline Kannengiesser; Mohamed Touati; Loïc Garçon; Agnès Guerci- 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 177 KB

X-linked Sideroblastic Anemia (XLSA) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors. XLSA is due to mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene. Thi

Novel frameshift mutation (1806insA) in

Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia c gene, FAC

✍ Jerome R. Lo Ten Foe; Martin A. Rooimans; Hans Joenje; Fré Arwert 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 180 KB 👁 2 views

## Bobrw Fanconi anemia (FA) is a rare autosomal reces-

A novel p.Arg970X mutation in the last e

A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder

✍ Stavroula Psoni; Patrick J. Willems; Emmanuel Kanavakis; Ariadne Mavrou; Helen F 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 135 KB

X-linked hydrocephalus: a novel missense

X-linked hydrocephalus: a novel missense mutation in the L1CAM gene

✍ L.ászló Sztriha; Yvonne J Vos; Edwin Verlind; Johan Johansen; Bertel Berg 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 117 KB