| First Author | Baden HP | Year | 1976 |
| Journal | Am J Hum Genet | Volume | 28 |
| Issue | 5 | Pages | 514-21 |
| PubMed ID | 984047 | Mgi Jnum | J:44381 |
| Mgi Id | MGI:1100105 | Citation | Baden HP, et al. (1976) The physicochemical properties of hair in the BIDS syndrome. Am J Hum Genet 28(5):514-21 |
| abstractText | The physicochemical properties of hair from a new recessive syndrome associated with brittle hair, intellectual impairment, decreased fertility, and short stature have been studied. Electrophoresis of the SCM-structural proteins showed that the alpha polypeptides appeared normal, but the matrix component was markedly reduced. This was confirmed by finding a normal alpha X-ray diffraction pattern but a reduced 1/2 cystine content of hair and an abnormal stress-strain curve. Electron-microscopic studies revealed extreme disorganization of the filaments which most likely resulted from the absence of normal cross-linking. Nails, which contain structural proteins similar to hair, also showed the abnormality. Since the matrix component seen by electrophoresis consists of more than one component the defect cannot be explained as a single structural gene abnormality. |
