| scholarly article | Q13442814 |
| P2093 | author name string | J S Chamberlain | |
| D A Pillers | |||
| D Wu | |||
| J A Towbin | |||
| E R McCabe | |||
| B R Powell | |||
| J Ranier | |||
| P2860 | cites work | Genomic sequencing | Q24594942 |
| Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification | Q24633695 | ||
| An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry | Q24678018 | ||
| Detection of specific sequences among DNA fragments separated by gel electrophoresis | Q25939003 | ||
| A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity | Q26778490 | ||
| Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals | Q30050310 | ||
| A NEW EYE SYNDROME WITH X-CHROMOSOMAL TRANSMISSION. A FAMILY CLAN WITH FUNDUS ALBINISM, FOVEA HYPOPLASIA, NYSTAGMUS, MYOPIA, ASTIGMATISM AND DYSCHROMATOPSIA | Q34258472 | ||
| Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions | Q34559460 | ||
| Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia | Q34563753 | ||
| Rapid transfer of DNA from agarose gels to nylon membranes | Q34695796 | ||
| Construction of human gene libraries from small amounts of peripheral blood: analysis of beta-like globin genes | Q36645445 | ||
| Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness | Q38671213 | ||
| Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients | Q39317928 | ||
| Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria | Q40110280 | ||
| Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. | Q52058110 | ||
| Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia. | Q52071075 | ||
| Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy. | Q52079304 | ||
| Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome | Q61820974 | ||
| Identification of a nondeletion defect in alpha-thalassemia | Q67687717 | ||
| Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus | Q69355905 | ||
| Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes | Q69856027 | ||
| Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia | Q69910395 | ||
| Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies | Q69968724 | ||
| Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion | Q70089475 | ||
| Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion | Q70123413 | ||
| Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities | Q72857905 | ||
| Ocular albinism and Xg | Q93701721 | ||
| P433 | issue | 5 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | eye disease | Q3041498 |
| P304 | page(s) | 795-801 | |
| P577 | publication date | 1990-11-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy | |
| P478 | volume | 47 |
| Q37312045 | Aland island eye disease: clinical and electrophysiological studies of a Welsh family |
| Q33676559 | Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness |
| Q33596132 | Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. |
| Q33596248 | Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous |
| Q35196313 | Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints |
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