Caveat to genotype–phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate‐2‐sulfatase gene

Chester B Whitley; Rose Ann Anderson; Elena L Aronovich; Paul L. Crotty; Kwame Anyane‐Yeboa; Donna Russo; Dorothy Warburton

doi:10.1002/humu.1380020313

Caveat to genotype–phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate‐2‐sulfatase gene

Chester B Whitley, Rose Ann Anderson, Elena L Aronovich, Paul L. Crotty, Kwame Anyane‐Yeboa, Donna Russo, Dorothy Warburton

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

32 Scopus citations

Original language	English (US)
Pages (from-to)	235-237
Number of pages	3
Journal	Human mutation
Volume	2
Issue number	3
DOIs	https://doi.org/10.1002/humu.1380020313
State	Published - 1993

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10.1002/humu.1380020313

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@article{7b7f2d9fb6f04ef6a22a91b00ecd42ce,

title = "Caveat to genotype–phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate‐2‐sulfatase gene",

author = "Whitley, {Chester B} and Anderson, {Rose Ann} and Aronovich, {Elena L} and Crotty, {Paul L.} and Kwame Anyane‐Yeboa and Donna Russo and Dorothy Warburton",

year = "1993",

doi = "10.1002/humu.1380020313",

language = "English (US)",

volume = "2",

pages = "235--237",

journal = "Human mutation",

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TY - JOUR

T1 - Caveat to genotype–phenotype correlation in mucopolysaccharidosis type II

T2 - Discordant clinical severity of R468W and R468Q mutations of the iduronate‐2‐sulfatase gene

AU - Whitley, Chester B

AU - Anderson, Rose Ann

AU - Aronovich, Elena L

AU - Crotty, Paul L.

AU - Anyane‐Yeboa, Kwame

AU - Russo, Donna

AU - Warburton, Dorothy

PY - 1993

Y1 - 1993

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U2 - 10.1002/humu.1380020313

DO - 10.1002/humu.1380020313

M3 - Article

C2 - 8364592

AN - SCOPUS:0027216667

SN - 1059-7794

VL - 2

SP - 235

EP - 237

JO - Human mutation

JF - Human mutation

IS - 3

ER -

Caveat to genotype–phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate‐2‐sulfatase gene

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