A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1)

1997 ◽  
Vol 11 (3) ◽  
pp. 233-236 ◽  
Author(s):  
Ali Attaie ◽  
Eugene Kim ◽  
Edward R. Wilcox ◽  
Anil K. Lalwani
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Site Mutation ◽  
Generation Family

An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema

1991 ◽  
Vol 88 (2) ◽  
Author(s):  
Z. Siddique ◽  
A.R. McPhaden ◽  
D.F. Lappin ◽  
K. Whaley
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Type I ◽  
C1 Inhibitor ◽  
Site Mutation ◽  
Inhibitor Gene

scholarly journals A Novel RNA Splice Site Mutation in the C1 Inhibitor Gene of a Patient with Type I Hereditary Angioedema

2004 ◽  
Vol 43 (3) ◽  
pp. 253-255 ◽  
Author(s):  
Yoshiki SEKIJIMA ◽  
Takao HASHIMOTO ◽  
Yasuhiro KAWACHI ◽  
Hiroshi KOSHIHARA ◽  
Fujio OTSUKA ◽  
...  
Keyword(s):  
Splice Site ◽  
Hereditary Angioedema ◽  
Splice Site Mutation ◽  
Type I ◽  
C1 Inhibitor ◽  
Site Mutation ◽  
Inhibitor Gene

Poor Relationship between Phenotypes of Protein S Deficiency and Mutations in the Protein S Alpha Gene

1999 ◽  
Vol 82 (12) ◽  
pp. 1634-1638 ◽  
Author(s):  
José Hermida ◽  
Pier Mannuccio Mannucci ◽  
Elena Faioni
Keyword(s):  
Splice Site ◽  
Genetic Defect ◽  
Splice Site Mutation ◽  
Protein S ◽  
Nucleotide Sequencing ◽  
Type I ◽  
Protein S Deficiency ◽  
Site Mutation ◽  
Single Strand Conformational Polymorphism ◽  
S Deficiency

SummaryBy single strand conformational polymorphism, nucleotide sequencing and enzyme restriction, we analyzed the protein S α gene in 17 protein S-deficient probands and in their available family members. The relationship between genotype and phenotype was also evaluated. Twelve different sequence variations were identified in 17 probands. Ten were putative causal mutations distributed in 16 probands: 4 were nonsense, 5 missense and one a splice site mutation. In most families in which a mutation was identified, more than one phenotype of PS deficiency was present. The same splice site mutation (intron j G-A, exon 10+5) was associated with type I deficiency in one family and with type I/III in another unrelated family. A phenotypic discrepancy was also observed for the Arg474Pro, Gly597Asp and Arg410stop mutations. Glu26Ala, previously reported in kindreds with type I deficiencies, was found in association with I, II and III phenotypes in four unrelated kindreds. Phenotypic analysis of protein S deficiency is poorly related to the underlying genetic defect.

A Novel Splice Site Mutation in a Brazilian Patient with Hereditary Antithrombin Deficiency Type I

1999 ◽  
Vol 49 (2) ◽  
pp. 119-120 ◽  
Author(s):  
LilianeA.T. Arnaldi ◽  
NewtonC. Polimeno ◽  
ValderR. Arruda ◽  
JoyceM. Annichino-Bizzacchi
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Type I ◽  
Site Mutation ◽  
Antithrombin Deficiency ◽  
Brazilian Patient ◽  
Deficiency Type

scholarly journals A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients

2017 ◽  
Vol 18 (1) ◽  
Author(s):  
Monica Cattaneo ◽  
Lucia La Sala ◽  
Maurizio Rondinelli ◽  
Edoardo Errichiello ◽  
Orsetta Zuffardi ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Wolfram Syndrome ◽  
Donor Splice Site ◽  
Syndrome Type ◽  
Site Mutation ◽  
Donor Splice

scholarly journals A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform

1997 ◽  
Vol 272 (51) ◽  
pp. 32345-32352 ◽  
Author(s):  
Hermelita Winter ◽  
Ilse Hofmann ◽  
Lutz Langbein ◽  
Michael A. Rogers ◽  
Jürgen Schweizer
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Type I ◽  
Site Mutation ◽  
Human Type ◽  
Hair Keratin
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