Download Advances in Human Genetics by Richard A. Spritz, Vincent J. Hearing Jr. (auth.), Harry PDF

By Richard A. Spritz, Vincent J. Hearing Jr. (auth.), Harry Harris, Kurt Hirschhorn (eds.)

From experiences of past volumes within the series: 'Extremely valuable...thoroughly recommended.'-Annals of Human Genetics 'The so much lucid and stimulating discussions of the subject to be came upon anywhere.'-American Scientist

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Hearing, Jr. W results from deficient proliferation of melanoblasts prior to migration during development. , 1994b). The first direct evidence for the involvement of KIT mutations in human piebaldism came from Giebel and Spritz (1991), who studied an extended kindred with piebaldism and identified a missense mutation, G664R, within the highly conserved intracellular tyrosine kinase domain, and demonstrated linkage with a lod score in excess of 6 with no recombinants . , 1992a). As shown in Table IV and Fig.

Blackened triangles indicate the sites of in-frame deletions; other symbols are as described in the legend to Fig. 2. Many of the indicated mutations represent our unpublished data, and are not included in Table III. This unexpected difference between Caucasian and black patients with tyrosinasepositive OCA may be the result of historically different selection pressures on these two populations. The range of phenotypes associated with pathologic mutations of the P gene in humans is very broad .

J. Pediatr. 34:1lI-114. , 1991 , Waardenburg syndrome (WS): The analysis ofa single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q, Am . J. Hum. Genet. 48:43-52 . , 1992, An exonic mutation in the HuP2 paired domain gene causes Waardenburg syndrome, Nature 355:637-638 . , 1993, Rearrangement of the PAX3 paired box gene in the pediatric solid tumor alveolar rhabdomyosarcoma, Nature Genetics 3:113-117 . , 1991 , Color genes, oncogenes and melanocyte differentiation , J.

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