Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

P Höglund; M Sormaala; S Haila; J Socha; U Rajaram; W Scheurlen; M (Maarten) Sinaasappel; Hugo de Jonge; C Holmberg; H Yoshikawa; J Kere

doi:10.1002/humu.1179

Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

P Höglund, M Sormaala, S Haila, J Socha, U Rajaram, W Scheurlen, M (Maarten) Sinaasappel, Hugo de Jonge, C Holmberg, H Yoshikawa, J Kere

Research output: Contribution to journal › Article › Academic › peer-review

27 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	233-242
Number of pages	10
Journal	Human Mutation
Volume	18
DOIs	https://doi.org/10.1002/humu.1179
Publication status	Published - 2001

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Access to Document

10.1002/humu.1179

http://hdl.handle.net/1765/65094

Cite this

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title = "Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea",

author = "P H{\"o}glund and M Sormaala and S Haila and J Socha and U Rajaram and W Scheurlen and Sinaasappel, {M (Maarten)} and {de Jonge}, Hugo and C Holmberg and H Yoshikawa and J Kere",

year = "2001",

doi = "10.1002/humu.1179",

language = "Undefined/Unknown",

volume = "18",

pages = "233--242",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley-Liss Inc.",

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TY - JOUR

T1 - Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

AU - Höglund, P

AU - Sormaala, M

AU - Haila, S

AU - Socha, J

AU - Rajaram, U

AU - Scheurlen, W

AU - Sinaasappel, M (Maarten)

AU - de Jonge, Hugo

AU - Holmberg, C

AU - Yoshikawa, H

AU - Kere, J

PY - 2001

Y1 - 2001

U2 - 10.1002/humu.1179

DO - 10.1002/humu.1179

M3 - Article

SN - 1059-7794

VL - 18

SP - 233

EP - 242

JO - Human Mutation

JF - Human Mutation

ER -