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| MUTATIONS IN THE ROD DOMAIN OF KERATIN 2E IN PATIENTS WITH ICHTHYOSIS BULLOSA OF SIEMENS |
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| Author(s): ROTHNAGEL JA, TRAUPE H, WOJCIK S, HUBER M, HOHL D, PITTELKOW MR, SAEKI H, ISHIBASHI Y, ROOP DR |
| Source: NATURE GENETICS Volume: 7 Issue: 4 Pages: 485-490 Published: AUG 1994 |
| Times Cited: 96 References: 32 |
| Abstract: Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant skin disorder that resembles epidermolytic hyperkeratosis (EHK). We have indentified mutations in two families originally diagnosed with EHK and in four families diagnosed with IBS at the same codon in the highly conserved carboxy terminal of the rod domain of keratin 2e, thus revealing a mutational hot spot. Our results allow a differential diagnosis to be made between IBS and EHK at the genetic level and we suggest that patients diagnosed with EHK, but lacking keratin K1 or K10 mutations, should be re-examined for mutations in their K2e genes. |
| Document Type: Article |
| Language: English |
Addresses:
1. BAYLOR COLL MED, DEPT CELL BIOL, HOUSTON, TX 77030 USA
2. BAYLOR COLL MED, DEPT DERMATOL, HOUSTON, TX 77030 USA
3. UNIV MUNSTER, DEPT DERMATOL, W-4400 MUNSTER, GERMANY
4. UNIV LAUSANNE, MED CTR, DEPT DERMATOL, LAUSANNE, SWITZERLAND
5. MAYO CLIN & MAYO FDN, DEPT DERMATOL, ROCHESTER, MN 55905 USA
6. MAYO CLIN & MAYO FDN, DEPT BIOCHEM & MOLEC BIOL, ROCHESTER, MN 55905 USA
7. UNIV TOKYO, DEPT DERMATOL, TOKYO 113, JAPAN |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: PA832 |
| ISSN: 1061-4036 |
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