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Volume 18; Issue 2
Main
Human Mutation
Volume 18; Issue 2
Human Mutation
Volume 18; Issue 2
1
Using linked markers to infer the age of a mutation
Bruce Rannala
,
Giorgio Bertorelle
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 328 KB
Your tags:
english, 2001
2
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness
Saber Masmoudi
,
Stylianos E. Antonarakis
,
Torsten Schwede
,
Abdel Monem Ghorbel
,
M’hamed Gratri
,
Marie-Pierre Pappasavas
,
Mohamed Drira
,
Amel Elgaied-Boulila
,
Marie Wattenhofer
,
Colette Rossier
,
Hamish
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 575 KB
Your tags:
english, 2001
3
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains
Maria Giuseppina Miano
,
Francesco Testa
,
Francesco Filippini
,
Mariajosè Trujillo
,
Ivan Conte
,
Carmela Lanzara
,
Josè Maria Millán
,
Carmelilia De Bernardo
,
Barbara Grammatico
,
Massimo Mangino
,
Isabella
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 374 KB
Your tags:
english, 2001
4
Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity
Hong Chen
,
Satya Jawahar
,
Yimei Qian
,
Quyen Duong
,
Gayun Chan
,
Alex Parker
,
Joanne M. Meyer
,
Karen J. Moore
,
Susan Chayen
,
David J. Gross
,
Benjamin Glaser
,
M. Alan Permutt
,
Lloyd D. Fricker
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 444 KB
Your tags:
english, 2001
5
DHPLC analysis of the MECP2 gene in Italian Rett patients
Piero Nicolao
,
Massimo Carella
,
Bruno Giometto
,
Bruno Tavolato
,
Riccardo Cattin
,
Maria Luisa Giovannucci-Uzielli
,
Marcella Vacca
,
Floriana Della Regione
,
Stefania Piva
,
Stefania Bortoluzzi
,
Paolo Gasp
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 237 KB
Your tags:
english, 2001
6
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome
Jens Michael Hertz
,
Inger Juncker
,
Ulf Persson
,
Gert Matthijs
,
Jörg Schmidtke
,
Michael B. Petersen
,
Margrethe Kjeldsen
,
Niels Gregersen
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 260 KB
Your tags:
english, 2001
7
Detection of germline mutations in the BRCA1 gene by RNA-based sequencing
Anna Jakubowska
,
Bohdan Górski
,
Tomasz Byrski
,
Tomasz Huzarski
,
Jacek Gronwald
,
Janusz Menkiszak
,
Cezary Cybulski
,
Tadeusz Debniak
,
Piotr Hadaczek
,
Rodney J. Scott
,
Jan Lubinski
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 305 KB
Your tags:
english, 2001
8
A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males
C.B. Santos
,
M.A. Costa Lima
,
M.M.G. Pimentel
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 199 KB
Your tags:
english, 2001
9
Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene)
Bénédicte Gérard
,
Jamel El Benna
,
Françoise Alcain
,
Marie-Anne Gougerot-Pocidalo
,
Bernard Grandchamp
,
Sylvie Chollet-Martin
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 19 KB
Your tags:
english, 2001
10
Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer
Francesco Baudi
,
Barbara Quaresima
,
Cristina Grandinetti
,
Giovanni Cuda
,
Concetta Faniello
,
Pierfrancesco Tassone
,
Vito Barbieri
,
Roberta Bisegna
,
Enrico Ricevuto
,
Serafino Conforti
,
Alessandra Viel
,
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 140 KB
Your tags:
english, 2001
11
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
Marcia J. Simovich
,
Beverly Miller
,
Hany Ezzeldin
,
Bryan T. Kirkland
,
Genevieve McLeod
,
Chere Fulmer
,
Jeremy Nathans
,
Samuel G. Jacobson
,
Steven J. Pittler
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 23 KB
Your tags:
english, 2001
12
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene
Mirella Filocamo
,
Gloria Bonuccelli
,
Fabio Corsolini
,
Raffaella Mazzotti
,
Roberto Cusano
,
Rosanna Gatti
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 34 KB
Your tags:
english, 2001
13
Expression and analysis of CLN2 variants in CHO cells: Q100r represents a polymorphism, and G389E and R447H represent loss-of-function mutations
Li Lin
,
Peter Lobel
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 83 KB
Your tags:
english, 2001
14
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia
M.S. Nauck
,
W. Köster
,
K. Dörfer
,
J. Eckes
,
H. Scharnagl
,
H. Gierens
,
H. Nissen
,
M.A. Nauck
,
H. Wieland
,
Winfried März
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 58 KB
Your tags:
english, 2001
15
Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis
Carlo Castellani
,
Macarena Gomez Lira
,
Luca Frulloni
,
Antonella Delmarco
,
Maria Marzari
,
Alberto Bonizzato
,
Giorgio Cavallini
,
PierFranco Pignatti
,
Gianni Mastella
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 34 KB
Your tags:
english, 2001
16
Population screening if F508del (ΔF508), the most frequent mutation in the CFTR gene associated with cystic fibrosis in Argentina
María Roqué
,
Clara Pott Godoy
,
Mariana Castellanos
,
Eduardo Pusiol
,
Luis S. Mayorga
Journal:
Human Mutation
Year:
2001
Language:
english
File:
PDF, 35 KB
Your tags:
english, 2001
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