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Literature DB >> 1674370

Rapid PCR analysis of the St14 (DXS52) VNTR.

B Richards¹, R Heilig, I Oberlé, L Storjohann, G T Horn.

Abstract

Entities: Gene

Mesh：

Substances：

Year: 1991 PMID： 1674370 PMCID： PMC328130 DOI： 10.1093/nar/19.8.1944

Source DB: PubMed Journal: Nucleic Acids Res ISSN： 0305-1048 Impact factor: 16.971

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2 in total

1. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors: R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal: Science Date: 1988-01-29 Impact factor: 47.728

2. Genetic mapping of the human X chromosome: linkage analysis of the q26-q28 region that includes the fragile X locus and isolation of expressed sequences.

Authors: J L Mandel; B Arveiler; G Camerino; A Hanauer; R Heilig; M Koenig; I Oberlé
Journal: Cold Spring Harb Symp Quant Biol Date: 1986

2 in total

11 in total

1. PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.

Authors: S Lindsay; M Splitt; S Edney; T P Berney; S J Knight; K E Davies; O O'Brien; M Gale; J Burn
Journal: Am J Hum Genet Date: 1996-06 Impact factor: 11.025

2. Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.

Authors: C Stavropoulou; C Mignon; B Delobel; A Moncla; D Depetris; M F Croquette; M G Mattei
Journal: J Med Genet Date: 1998-11 Impact factor: 6.318

3. Refining the genetic location of the gene for X linked hydrocephalus within Xq28.

Authors: M Jouet; E Feldman; J Yates; D Donnai; J Paterson; D Siggers; S Kenwrick
Journal: J Med Genet Date: 1993-03 Impact factor: 6.318

4. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Authors: S W Knight; N S Heiss; T J Vulliamy; S Greschner; G Stavrides; G S Pai; G Lestringant; N Varma; P J Mason; I Dokal; A Poustka
Journal: Am J Hum Genet Date: 1999-07 Impact factor: 11.025

5. Fine mapping of the dyskeratosis congenita locus in Xq28.

Authors: S W Knight; T Vulliamy; G L Forni; D Oscier; P J Mason; I Dokal
Journal: J Med Genet Date: 1996-12 Impact factor: 6.318

6. Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

Authors: J Becker; R Schwaab; A Möller-Taube; U Schwaab; W Schmidt; H H Brackmann; T Grimm; K Olek; J Oldenburg
Journal: Am J Hum Genet Date: 1996-04 Impact factor: 11.025

Rapid PCR analysis of the St14 (DXS52) VNTR.

1. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

2. Genetic mapping of the human X chromosome: linkage analysis of the q26-q28 region that includes the fragile X locus and isolation of expressed sequences.

1. PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.

2. Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.

3. Refining the genetic location of the gene for X linked hydrocephalus within Xq28.

4. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

5. Fine mapping of the dyskeratosis congenita locus in Xq28.

6. Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

7. X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies.

8. The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region.

9. Gonadal mosaicism for incontinentia pigmenti in a healthy male.

10. Genetic analysis of haemophilia A in Bulgaria.