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7. Linkage relationships of the protein kinase C gamma gene which exclude it as a candidate for myotonic dystrophy. Johnson KJ; Jones PJ; Spurr N; Nimmo E; Davies J; Creed H; Weiss M; Williamson R Cytogenet Cell Genet; 1988; 48(1):13-5. PubMed ID: 2460293 [TBL] [Abstract][Full Text] [Related]
8. Characterization of the p67phox gene: genomic organization and restriction fragment length polymorphism analysis for prenatal diagnosis in chronic granulomatous disease. Kenney RT; Malech HL; Epstein ND; Roberts RL; Leto TL Blood; 1993 Dec; 82(12):3739-44. PubMed ID: 7903171 [TBL] [Abstract][Full Text] [Related]
9. The beta subunit locus of the human fibronectin receptor: DNA restriction fragment length polymorphism and linkage mapping studies. Wu JS; Giuffra LA; Goodfellow PJ; Myers S; Carson NL; Anderson L; Hoyle LS; Simpson NE; Kidd KK Hum Genet; 1989 Nov; 83(4):383-90. PubMed ID: 2572537 [TBL] [Abstract][Full Text] [Related]
10. First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family. Orimo H; Nakajima E; Hayashi Z; Kijima K; Watanabe A; Tenjin H; Araki T; Shimada T Prenat Diagn; 1996 Jun; 16(6):559-63. PubMed ID: 8809899 [TBL] [Abstract][Full Text] [Related]
11. Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening. Chodirker BN; Evans JA; Seargeant LE; Cheang MS; Greenberg CR Am J Hum Genet; 1990 Feb; 46(2):280-5. PubMed ID: 2301398 [TBL] [Abstract][Full Text] [Related]
12. Infantile hypophosphatasia--linkage with the RH locus. Chodirker BN; Evans JA; Lewis M; Coghlan G; Belcher E; Philipps S; Seargeant LE; Sus C; Greenberg CR Genomics; 1987 Nov; 1(3):280-2. PubMed ID: 3128473 [TBL] [Abstract][Full Text] [Related]
13. Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. Spentchian M; Merrien Y; Herasse M; Dobbie Z; Gläser D; Holder SE; Ivarsson SA; Kostiner D; Mansour S; Norman A; Roth J; Stipoljev F; Taillemite JL; van der Smagt JJ; Serre JL; Simon-Bouy B; Taillandier A; Mornet E Hum Mutat; 2003 Jul; 22(1):105-6. PubMed ID: 12815606 [TBL] [Abstract][Full Text] [Related]
14. A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia. Watanabe H; Hashimoto-Uoshima M; Goseki-Sone M; Orimo H; Ishikawa I Oral Dis; 2001 Nov; 7(6):331-5. PubMed ID: 11834095 [TBL] [Abstract][Full Text] [Related]
16. Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34. Smith M; Weiss MJ; Griffin CA; Murray JC; Buetow KH; Emanuel BS; Henthorn PS; Harris H Genomics; 1988 Feb; 2(2):139-43. PubMed ID: 3410475 [TBL] [Abstract][Full Text] [Related]
17. Restriction analysis of the structural alpha-L-fucosidase gene and its linkage to fucosidosis. Darby JK; Willems PJ; Nakashima P; Johnsen J; Ferrell RE; Wijsman EM; Gerhard DS; Dracopoli NC; Housman D; Henke J Am J Hum Genet; 1988 Nov; 43(5):749-55. PubMed ID: 2903667 [TBL] [Abstract][Full Text] [Related]
18. Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population. Iwata H; Tomatsu S; Fukuda S; Uchiyama A; Rezvi GM; Ogawa T; Hori T; Nakashima Y; Yamagishi A; Sukegawa K Hum Genet; 1995 Mar; 95(3):257-64. PubMed ID: 7532616 [TBL] [Abstract][Full Text] [Related]
19. Carrier diagnosis by RFLP analysis in a family affected with infantile hypophosphatasia: case report. Akane A; Shiono H; Matsubara K; Nakamura H; Hasegawa M; Kagawa M; Kobayashi A; Mori C Jinrui Idengaku Zasshi; 1991 Dec; 36(4):335-9. PubMed ID: 1687418 [No Abstract] [Full Text] [Related]
20. Prenatal diagnosis of cystic fibrosis by chorionic villus sampling using 12 polymorphic deoxyribonucleic acid markers. Nugent CE; Gravius T; Green P; Larsen JW; MacMillin MD; Donis-Keller H Obstet Gynecol; 1988 Feb; 71(2):213-5. PubMed ID: 3422111 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]